{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T17:21:06Z","timestamp":1784481666535,"version":"3.55.0"},"reference-count":86,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2021,5,30]],"date-time":"2021-05-30T00:00:00Z","timestamp":1622332800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,5,30]],"date-time":"2021-05-30T00:00:00Z","timestamp":1622332800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","award":["ARUK-RF2018C-005"],"award-info":[{"award-number":["ARUK-RF2018C-005"]}],"id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neural Transm"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Professor Kurt Jellinger is well known for his seminal work on the neuropathology of age-associated neurodegenerative disorders, particularly Lewy body diseases. However, it is less well known that he also contributed important insights into the neuropathological features of several paediatric neurometabolic diseases, including Alpers\u2013Huttenlocher syndrome, a syndrome of mitochondrial disease caused by <jats:italic>POLG<\/jats:italic> mutations, and infantile neuroaxonal dystrophy, a phenotype resulting from <jats:italic>PLA2G6<\/jats:italic> mutations. Despite these rare diseases occurring in early life, they share many important pathological overlaps with age-associated Lewy body disease, particularly dysregulation of \u03b1-synuclein. In this review, we describe several neurometabolic diseases linked to Lewy body disease mechanisms, and discuss the wider context to pathological overlaps between neurometabolic and Lewy body diseases. In particular, we will focus on how understanding disease mechanisms in neurometabolic disorders with dysregulated \u03b1-synuclein may generate insights into predisposing factors for \u03b1-synuclein aggregation in idiopathic Lewy body diseases.<\/jats:p>","DOI":"10.1007\/s00702-021-02355-7","type":"journal-article","created":{"date-parts":[[2021,5,30]],"date-time":"2021-05-30T17:02:47Z","timestamp":1622394167000},"page":"1567-1575","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Insights into Lewy body disease from rare neurometabolic disorders"],"prefix":"10.1007","volume":"128","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1752-5343","authenticated-orcid":false,"given":"Daniel","family":"Erskine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Attems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,30]]},"reference":[{"issue":"1","key":"2355_CR1","doi-asserted-by":"publisher","first-page":"12462","DOI":"10.1038\/s41598-018-30808-9","volume":"8","author":"H Abdelkarim","year":"2018","unstructured":"Abdelkarim H, Marshall MS, Scesa G, Smith RA, Rue E, Marshall J, Bongarzone ER et al (2018) alpha-Synuclein interacts directly but reversibly with psychosine: implications for alpha-synucleinopathies. Sci Rep 8(1):12462. https:\/\/doi.org\/10.1038\/s41598-018-30808-9","journal-title":"Sci Rep"},{"key":"2355_CR2","doi-asserted-by":"publisher","first-page":"597","DOI":"10.3389\/fgene.2018.00597","volume":"9","author":"PL Babin","year":"2018","unstructured":"Babin PL, Rao SNR, Chacko A, Alvina FB, Panwala A, Panwala L, Fumagalli DC (2018) Infantile neuroaxonal dystrophy: diagnosis and possible treatments. Front Genet 9:597. https:\/\/doi.org\/10.3389\/fgene.2018.00597","journal-title":"Front Genet"},{"key":"2355_CR3","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20192193","author":"F Bassil","year":"2021","unstructured":"Bassil F, Meymand ES, Brown HJ, Xu H, Cox TO, Pattabhiraman S, Lee VM et al (2021) alpha-Synuclein modulates tau spreading in mouse brains. J Exp Med. https:\/\/doi.org\/10.1084\/jem.20192193","journal-title":"J Exp Med"},{"key":"2355_CR4","doi-asserted-by":"publisher","first-page":"143 e141","DOI":"10.1016\/j.neurobiolaging.2020.03.021","volume":"93","author":"BOA Bencheikh","year":"2020","unstructured":"Bencheikh BOA, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Gan-Or Z et al (2020) Variants in the Niemann\u2013Pick type C gene NPC1 are not associated with Parkinson\u2019s disease. Neurobiol Aging 93:143 e141-143 e144. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2020.03.021","journal-title":"Neurobiol Aging"},{"key":"2355_CR5","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.mito.2014.01.004","volume":"15","author":"SR Bentley","year":"2014","unstructured":"Bentley SR, Shan J, Todorovic M, Wood SA, Mellick GD (2014) Rare POLG1 CAG variants do not influence Parkinson\u2019s disease or polymerase gamma function. Mitochondrion 15:65\u201368. https:\/\/doi.org\/10.1016\/j.mito.2014.01.004","journal-title":"Mitochondrion"},{"issue":"4","key":"2355_CR6","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.3233\/JAD-161224","volume":"59","author":"BM Bettcher","year":"2017","unstructured":"Bettcher BM, Ard MC, Reed BR, Benitez A, Simmons A, Larson EB, Mungas D et al (2017) Association between cholesterol exposure and neuropathological findings: the ACT study. J Alzheimers Dis 59(4):1307\u20131315. https:\/\/doi.org\/10.3233\/JAD-161224","journal-title":"J Alzheimers Dis"},{"issue":"5","key":"2355_CR7","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1038\/nchembio782","volume":"2","author":"DA Bosco","year":"2006","unstructured":"Bosco DA, Fowler DM, Zhang Q, Nieva J, Powers ET, Wentworth P Jr, Kelly JW et al (2006) Elevated levels of oxidized cholesterol metabolites in Lewy body disease brains accelerate alpha-synuclein fibrilization. Nat Chem Biol 2(5):249\u2013253. https:\/\/doi.org\/10.1038\/nchembio782","journal-title":"Nat Chem Biol"},{"issue":"2","key":"2355_CR8","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/s0197-4580(02)00065-9","volume":"24","author":"H Braak","year":"2003","unstructured":"Braak H, Del Tredici K, Rub U, de Vos RA, Jansen Steur EN, Braak E (2003) Staging of brain pathology related to sporadic Parkinson\u2019s disease. Neurobiol Aging 24(2):197\u2013211. https:\/\/doi.org\/10.1016\/s0197-4580(02)00065-9","journal-title":"Neurobiol Aging"},{"issue":"1","key":"2355_CR9","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1186\/s40478-020-01004-6","volume":"8","author":"OR Brekk","year":"2020","unstructured":"Brekk OR, Korecka JA, Crapart CC, Huebecker M, MacBain ZK, Rosenthal SA, Hallett PJ et al (2020) Upregulating beta-hexosaminidase activity in rodents prevents alpha-synuclein lipid associations and protects dopaminergic neurons from alpha-synuclein-mediated neurotoxicity. Acta Neuropathol Commun 8(1):127. https:\/\/doi.org\/10.1186\/s40478-020-01004-6","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"2355_CR10","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/s10557-008-6132-9","volume":"23","author":"JE Burke","year":"2009","unstructured":"Burke JE, Dennis EA (2009) Phospholipase A2 biochemistry. Cardiovasc Drugs Ther 23(1):49\u201359. https:\/\/doi.org\/10.1007\/s10557-008-6132-9","journal-title":"Cardiovasc Drugs Ther"},{"issue":"2","key":"2355_CR11","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.nbd.2009.01.016","volume":"34","author":"JR Cannon","year":"2009","unstructured":"Cannon JR, Tapias V, Na HM, Honick AS, Drolet RE, Greenamyre JT (2009) A highly reproducible rotenone model of Parkinson\u2019s disease. Neurobiol Dis 34(2):279\u2013290. https:\/\/doi.org\/10.1016\/j.nbd.2009.01.016","journal-title":"Neurobiol Dis"},{"issue":"2","key":"2355_CR12","doi-asserted-by":"publisher","first-page":"e0172348","DOI":"10.1371\/journal.pone.0172348","volume":"12","author":"RB Chan","year":"2017","unstructured":"Chan RB, Perotte AJ, Zhou B, Liong C, Shorr EJ, Marder KS, Alcalay RN et al (2017) Elevated GM3 plasma concentration in idiopathic Parkinson\u2019s disease: a lipidomic analysis. PLoS ONE 12(2):e0172348. https:\/\/doi.org\/10.1371\/journal.pone.0172348","journal-title":"PLoS ONE"},{"issue":"1","key":"2355_CR13","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1111\/neup.12047","volume":"34","author":"Y Chiba","year":"2014","unstructured":"Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Shimada A et al (2014) Niemann\u2013Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case. Neuropathology 34(1):49\u201357. https:\/\/doi.org\/10.1111\/neup.12047","journal-title":"Neuropathology"},{"issue":"1","key":"2355_CR14","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1186\/s40478-019-0863-7","volume":"7","author":"M Chumarina","year":"2019","unstructured":"Chumarina M, Russ K, Azevedo C, Heuer A, Pihl M, Collin A, Roybon L et al (2019) Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene. Acta Neuropathol Commun 7(1):208. https:\/\/doi.org\/10.1186\/s40478-019-0863-7","journal-title":"Acta Neuropathol Commun"},{"issue":"25","key":"2355_CR15","doi-asserted-by":"publisher","first-page":"2814","DOI":"10.1021\/acs.biochem.9b00215","volume":"58","author":"AKR Dasari","year":"2019","unstructured":"Dasari AKR, Kayed R, Wi S, Lim KH (2019) Tau interacts with the C-terminal region of alpha-synuclein, promoting formation of toxic aggregates with distinct molecular conformations. Biochemistry 58(25):2814\u20132821. https:\/\/doi.org\/10.1021\/acs.biochem.9b00215","journal-title":"Biochemistry"},{"issue":"5","key":"2355_CR16","doi-asserted-by":"publisher","first-page":"e0178103","DOI":"10.1371\/journal.pone.0178103","volume":"12","author":"L D'Auria","year":"2017","unstructured":"D\u2019Auria L, Reiter C, Ward E, Moyano AL, Marshall MS, Nguyen D, Bongarzone ER et al (2017) Psychosine enhances the shedding of membrane microvesicles: implications in demyelination in Krabbe\u2019s disease. PLoS ONE 12(5):e0178103. https:\/\/doi.org\/10.1371\/journal.pone.0178103","journal-title":"PLoS ONE"},{"issue":"5","key":"2355_CR17","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1007\/s10545-012-9560-4","volume":"36","author":"R Debs","year":"2013","unstructured":"Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Sedel F et al (2013) Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis 36(5):859\u2013868. https:\/\/doi.org\/10.1007\/s10545-012-9560-4","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"2355_CR18","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s00401-019-02105-w","volume":"139","author":"D Erskine","year":"2020","unstructured":"Erskine D, Reeve AK, Polvikoski T, Schaefer AM, Taylor RW, Lax NZ, Ng YS et al (2020) Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. Acta Neuropathol 139(1):219\u2013221. https:\/\/doi.org\/10.1007\/s00401-019-02105-w","journal-title":"Acta Neuropathol"},{"key":"2355_CR19","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/s41531-019-0103-7","volume":"6","author":"S Fanning","year":"2020","unstructured":"Fanning S, Selkoe D, Dettmer U (2020) Parkinson\u2019s disease: proteinopathy or lipidopathy? NPJ Parkinsons Dis 6:3. https:\/\/doi.org\/10.1038\/s41531-019-0103-7","journal-title":"NPJ Parkinsons Dis"},{"issue":"5","key":"2355_CR20","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.neurobiolaging.2009.05.019","volume":"32","author":"R Frigerio","year":"2011","unstructured":"Frigerio R, Fujishiro H, Ahn TB, Josephs KA, Maraganore DM, DelleDonne A, Ahlskog JE et al (2011) Incidental Lewy body disease: do some cases represent a preclinical stage of dementia with Lewy bodies? Neurobiol Aging 32(5):857\u2013863. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2009.05.019","journal-title":"Neurobiol Aging"},{"key":"2355_CR21","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbapap.2018.07.004","author":"R Gaspar","year":"2018","unstructured":"Gaspar R, Pallbo J, Weininger U, Linse S, Sparr E (2018) Ganglioside lipids accelerate alpha-synuclein amyloid formation. Biochim Biophys Acta Proteins Proteom. https:\/\/doi.org\/10.1016\/j.bbapap.2018.07.004","journal-title":"Biochim Biophys Acta Proteins Proteom"},{"key":"2355_CR22","doi-asserted-by":"publisher","first-page":"578993","DOI":"10.3389\/fnins.2020.578993","volume":"14","author":"V Gilmozzi","year":"2020","unstructured":"Gilmozzi V, Gentile G, Castelo Rueda MP, Hicks AA, Pramstaller PP, Zanon A, Pichler I et al (2020) Interaction of alpha-synuclein with lipids: mitochondrial cardiolipin as a critical player in the pathogenesis of Parkinson\u2019s disease. Front Neurosci 14:578993. https:\/\/doi.org\/10.3389\/fnins.2020.578993","journal-title":"Front Neurosci"},{"issue":"1","key":"2355_CR23","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.gene.2014.09.046","volume":"555","author":"AC Graziano","year":"2015","unstructured":"Graziano AC, Cardile V (2015) History, genetic, and recent advances on Krabbe disease. Gene 555(1):2\u201313. https:\/\/doi.org\/10.1016\/j.gene.2014.09.046","journal-title":"Gene"},{"key":"2355_CR24","doi-asserted-by":"publisher","first-page":"1100","DOI":"10.3389\/fneur.2018.01100","volume":"9","author":"YP Guo","year":"2018","unstructured":"Guo YP, Tang BS, Guo JF (2018) PLA2G6-associated neurodegeneration (PLAN): review of clinical phenotypes and genotypes. Front Neurol 9:1100. https:\/\/doi.org\/10.3389\/fneur.2018.01100","journal-title":"Front Neurol"},{"key":"2355_CR25","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1136\/jnnp.26.3.195","volume":"26","author":"B Hagberg","year":"1963","unstructured":"Hagberg B, Sourander P, Svennerholm L (1963) Diagnosis of Krabbe\u2019s infantile leucodystrophy. J Neurol Neurosurg Psychiatry 26:195\u2013198. https:\/\/doi.org\/10.1136\/jnnp.26.3.195","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"2355_CR26","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s40478-020-00985-8","volume":"8","author":"C Hatton","year":"2020","unstructured":"Hatton C, Reeve A, Lax NZ, Blain A, Ng YS, El-Agnaf O, Erskine D et al (2020) Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies. Acta Neuropathol Commun 8(1):103. https:\/\/doi.org\/10.1186\/s40478-020-00985-8","journal-title":"Acta Neuropathol Commun"},{"issue":"12","key":"2355_CR27","doi-asserted-by":"publisher","first-page":"3303","DOI":"10.1194\/jlr.M039610","volume":"54","author":"JA Hawkins-Salsbury","year":"2013","unstructured":"Hawkins-Salsbury JA, Parameswar AR, Jiang X, Schlesinger PH, Bongarzone E, Ory DS, Sands MS et al (2013) Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture. J Lipid Res 54(12):3303\u20133311. https:\/\/doi.org\/10.1194\/jlr.M039610","journal-title":"J Lipid Res"},{"issue":"5","key":"2355_CR28","doi-asserted-by":"publisher","first-page":"822 e827","DOI":"10.1016\/j.neuron.2019.12.004","volume":"105","author":"MX Henderson","year":"2020","unstructured":"Henderson MX, Sedor S, McGeary I, Cornblath EJ, Peng C, Riddle DM, Lee VMY et al (2020) Glucocerebrosidase activity modulates neuronal susceptibility to pathological alpha-synuclein insult. Neuron 105(5):822 e827-836 e827. https:\/\/doi.org\/10.1016\/j.neuron.2019.12.004","journal-title":"Neuron"},{"issue":"3","key":"2355_CR29","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1002\/mds.27609","volume":"34","author":"X Huang","year":"2019","unstructured":"Huang X, Sterling NW, Du G, Sun D, Stetter C, Kong L, Mailman RB et al (2019) Brain cholesterol metabolism and Parkinson\u2019s disease. Mov Disord 34(3):386\u2013395. https:\/\/doi.org\/10.1002\/mds.27609","journal-title":"Mov Disord"},{"issue":"7","key":"2355_CR30","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1002\/mds.22310","volume":"24","author":"G Hudson","year":"2009","unstructured":"Hudson G, Tiangyou W, Stutt A, Eccles M, Robinson L, Burn DJ, Chinnery PF (2009) No association between common POLG1 variants and sporadic idiopathic Parkinson\u2019s disease. Mov Disord 24(7):1092\u20131094. https:\/\/doi.org\/10.1002\/mds.22310","journal-title":"Mov Disord"},{"issue":"1","key":"2355_CR31","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s13024-019-0339-z","volume":"14","author":"M Huebecker","year":"2019","unstructured":"Huebecker M, Moloney EB, van der Spoel AC, Priestman DA, Isacson O, Hallett PJ, Platt FM (2019) Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson\u2019s disease. Mol Neurodegener 14(1):40. https:\/\/doi.org\/10.1186\/s13024-019-0339-z","journal-title":"Mol Neurodegener"},{"issue":"5","key":"2355_CR32","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/s0387-7604(02)00057-8","volume":"24","author":"M Itoh","year":"2002","unstructured":"Itoh M, Hayashi M, Fujioka Y, Nagashima K, Morimatsu Y, Matsuyama H (2002) Immunohistological study of globoid cell leukodystrophy. Brain Dev 24(5):284\u2013290. https:\/\/doi.org\/10.1016\/s0387-7604(02)00057-8","journal-title":"Brain Dev"},{"issue":"Suppl 6","key":"2355_CR33","doi-asserted-by":"publisher","first-page":"S2","DOI":"10.1002\/mds.10557","volume":"18","author":"KA Jellinger","year":"2003","unstructured":"Jellinger KA (2003) Neuropathological spectrum of synucleinopathies. Mov Disord 18(Suppl 6):S2-12. https:\/\/doi.org\/10.1002\/mds.10557","journal-title":"Mov Disord"},{"issue":"1","key":"2355_CR34","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/mds.23795","volume":"27","author":"KA Jellinger","year":"2012","unstructured":"Jellinger KA (2012) Neuropathology of sporadic Parkinson\u2019s disease: evaluation and changes of concepts. Mov Disord 27(1):8\u201330. https:\/\/doi.org\/10.1002\/mds.23795","journal-title":"Mov Disord"},{"issue":"1","key":"2355_CR35","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1186\/s12916-018-1016-8","volume":"16","author":"KA Jellinger","year":"2018","unstructured":"Jellinger KA, Korczyn AD (2018) Are dementia with Lewy bodies and Parkinson\u2019s disease dementia the same disease? BMC Med 16(1):34. https:\/\/doi.org\/10.1186\/s12916-018-1016-8","journal-title":"BMC Med"},{"issue":"2","key":"2355_CR36","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1007\/BF00691306","volume":"10","author":"K Jellinger","year":"1968","unstructured":"Jellinger K, Seitelberger F, Rosenkranz W (1968) Infantile neuroaxonal dystrophy. Early form with preferential cerebellar involvement. Acta Neuropathol 10(2):123\u2013131. https:\/\/doi.org\/10.1007\/BF00691306","journal-title":"Acta Neuropathol"},{"key":"2355_CR37","doi-asserted-by":"publisher","first-page":"317","DOI":"10.7916\/D84Q7T4W","volume":"5","author":"S Karkheiran","year":"2015","unstructured":"Karkheiran S, Shahidi GA, Walker RH, Paisan-Ruiz C (2015) PLA2G6-associated dystonia-Parkinsonism: case report and literature review. Tremor Other Hyperkinet Mov (NY) 5:317. https:\/\/doi.org\/10.7916\/D84Q7T4W","journal-title":"Tremor Other Hyperkinet Mov (NY)"},{"key":"2355_CR38","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2020.5257","author":"DA Kia","year":"2021","unstructured":"Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH et al (2021) Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets. JAMA Neurol. https:\/\/doi.org\/10.1001\/jamaneurol.2020.5257","journal-title":"JAMA Neurol"},{"key":"2355_CR39","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/B978-0-12-410502-7.00009-0","volume":"110","author":"MC Kruer","year":"2013","unstructured":"Kruer MC (2013) The neuropathology of neurodegeneration with brain iron accumulation. Int Rev Neurobiol 110:165\u2013194. https:\/\/doi.org\/10.1016\/B978-0-12-410502-7.00009-0","journal-title":"Int Rev Neurobiol"},{"issue":"2","key":"2355_CR40","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1111\/nan.12238","volume":"42","author":"NZ Lax","year":"2016","unstructured":"Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Turnbull DM et al (2016) Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathol Appl Neurobiol 42(2):180\u2013193. https:\/\/doi.org\/10.1111\/nan.12238","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2355_CR41","doi-asserted-by":"publisher","first-page":"402","DOI":"10.3389\/fnagi.2018.00402","volume":"10","author":"G Li","year":"2018","unstructured":"Li G, Cui S, Du J, Liu J, Zhang P, Fu Y, Chen S et al (2018) Association of GALC, ZNF184, IL1R2 and ELOVL7 with Parkinson\u2019s disease in Southern Chinese. Front Aging Neurosci 10:402. https:\/\/doi.org\/10.3389\/fnagi.2018.00402","journal-title":"Front Aging Neurosci"},{"issue":"10","key":"2355_CR42","doi-asserted-by":"publisher","first-page":"e12146","DOI":"10.15252\/emmm.202012146","volume":"12","author":"KX Liang","year":"2020","unstructured":"Liang KX, Kristiansen CK, Mostafavi S, Vatne GH, Zantingh GA, Kianian A, Bindoff LA et al (2020) Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO Mol Med 12(10):e12146. https:\/\/doi.org\/10.15252\/emmm.202012146","journal-title":"EMBO Mol Med"},{"key":"2355_CR43","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2020.11.003","author":"H Liu","year":"2020","unstructured":"Liu H, Wang Y, Pan H, Xu K, Jiang L, Zhao Y, Guo J et al (2020a) Association of rare heterozygous PLA2G6 variants with the risk of Parkinson\u2019s disease. Neurobiol Aging. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2020.11.003","journal-title":"Neurobiol Aging"},{"key":"2355_CR44","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.2147\/NDT.S254065","volume":"16","author":"H Liu","year":"2020","unstructured":"Liu H, Yao Y, Liu H, Peng Y, Ren J, Wu X, Fang Y et al (2020b) Lack of association between PLA2G6 genetic variation and Parkinson\u2019s disease: a systematic review. Neuropsychiatr Dis Treat 16:1755\u20131763. https:\/\/doi.org\/10.2147\/NDT.S254065","journal-title":"Neuropsychiatr Dis Treat"},{"issue":"4\u20135","key":"2355_CR45","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1159\/000112167","volume":"13","author":"G Lyon","year":"1991","unstructured":"Lyon G, Hagberg B, Evrard P, Allaire C, Pavone L, Vanier M (1991) Symptomatology of late onset Krabbe\u2019s leukodystrophy: the European experience. Dev Neurosci 13(4\u20135):240\u2013244. https:\/\/doi.org\/10.1159\/000112167","journal-title":"Dev Neurosci"},{"issue":"2","key":"2355_CR46","doi-asserted-by":"publisher","first-page":"e0193438","DOI":"10.1371\/journal.pone.0193438","volume":"13","author":"MS Marshall","year":"2018","unstructured":"Marshall MS, Jakubauskas B, Bogue W, Stoskute M, Hauck Z, Rue E, Bongarzone ER et al (2018) Analysis of age-related changes in psychosine metabolism in the human brain. PLoS ONE 13(2):e0193438. https:\/\/doi.org\/10.1371\/journal.pone.0193438","journal-title":"PLoS ONE"},{"issue":"2","key":"2355_CR47","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1172\/JCI32806","volume":"118","author":"M Martinez-Vicente","year":"2008","unstructured":"Martinez-Vicente M, Talloczy Z, Kaushik S, Massey AC, Mazzulli J, Mosharov EV, Cuervo AM et al (2008) Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy. J Clin Invest 118(2):777\u2013788. https:\/\/doi.org\/10.1172\/JCI32806","journal-title":"J Clin Invest"},{"issue":"1","key":"2355_CR48","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1212\/WNL.0000000000004058","volume":"89","author":"IG McKeith","year":"2017","unstructured":"McKeith IG, Boeve BF, Dickson DW, Halliday G, Taylor JP, Weintraub D, Kosaka K et al (2017) Diagnosis and management of dementia with Lewy bodies: fourth consensus report of the DLB Consortium. Neurology 89(1):88\u2013100. https:\/\/doi.org\/10.1212\/WNL.0000000000004058","journal-title":"Neurology"},{"issue":"9","key":"2355_CR49","doi-asserted-by":"publisher","first-page":"e73094","DOI":"10.1371\/journal.pone.0073094","volume":"8","author":"MM Mielke","year":"2013","unstructured":"Mielke MM, Maetzler W, Haughey NJ, Bandaru VV, Savica R, Deuschle C, Liepelt-Scarfone I et al (2013) Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson\u2019s disease and associated with cognitive impairment: a pilot study. PLoS ONE 8(9):e73094. https:\/\/doi.org\/10.1371\/journal.pone.0073094","journal-title":"PLoS ONE"},{"key":"2355_CR50","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.neulet.2017.02.027","volume":"645","author":"Y Miki","year":"2017","unstructured":"Miki Y, Tanji K, Mori F, Kakita A, Takahashi H, Wakabayashi K (2017) PLA2G6 accumulates in Lewy bodies in PARK14 and idiopathic Parkinson\u2019s disease. Neurosci Lett 645:40\u201345. https:\/\/doi.org\/10.1016\/j.neulet.2017.02.027","journal-title":"Neurosci Lett"},{"issue":"6354","key":"2355_CR51","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1126\/science.aaf3934","volume":"357","author":"S Mittal","year":"2017","unstructured":"Mittal S, Bjornevik K, Im DS, Flierl A, Dong X, Locascio JJ, Scherzer CR et al (2017) beta2-Adrenoreceptor is a regulator of the alpha-synuclein gene driving risk of Parkinson\u2019s disease. Science 357(6354):891\u2013898. https:\/\/doi.org\/10.1126\/science.aaf3934","journal-title":"Science"},{"issue":"41","key":"2355_CR52","doi-asserted-by":"publisher","first-page":"20689","DOI":"10.1073\/pnas.1902958116","volume":"116","author":"A Mori","year":"2019","unstructured":"Mori A, Hatano T, Inoshita T, Shiba-Fukushima K, Koinuma T, Meng H, Hattori N et al (2019) Parkinson\u2019s disease-associated iPLA2-VIA\/PLA2G6 regulates neuronal functions and alpha-synuclein stability through membrane remodeling. Proc Natl Acad Sci USA 116(41):20689\u201320699. https:\/\/doi.org\/10.1073\/pnas.1902958116","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"2355_CR53","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13024-019-0306-8","volume":"14","author":"TF Outeiro","year":"2019","unstructured":"Outeiro TF, Koss DJ, Erskine D, Walker L, Kurzawa-Akanbi M, Burn D, McKeith I et al (2019) Dementia with Lewy bodies: an update and outlook. Mol Neurodegener 14(1):5. https:\/\/doi.org\/10.1186\/s13024-019-0306-8","journal-title":"Mol Neurodegener"},{"issue":"4","key":"2355_CR54","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.neurobiolaging.2010.05.009","volume":"33","author":"C Paisan-Ruiz","year":"2012","unstructured":"Paisan-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Houlden H et al (2012) Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 33(4):814\u2013823. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2010.05.009","journal-title":"Neurobiol Aging"},{"issue":"Pt 8","key":"2355_CR55","doi-asserted-by":"publisher","first-page":"2379","DOI":"10.1093\/brain\/awt160","volume":"136","author":"EJ Palin","year":"2013","unstructured":"Palin EJ, Paetau A, Suomalainen A (2013) Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders. Brain 136(Pt 8):2379\u20132392. https:\/\/doi.org\/10.1093\/brain\/awt160","journal-title":"Brain"},{"issue":"39","key":"2355_CR56","doi-asserted-by":"publisher","first-page":"14205","DOI":"10.3748\/wjg.v20.i39.14205","volume":"20","author":"G Paradies","year":"2014","unstructured":"Paradies G, Paradies V, Ruggiero FM, Petrosillo G (2014) Oxidative stress, cardiolipin and mitochondrial dysfunction in nonalcoholic fatty liver disease. World J Gastroenterol 20(39):14205\u201314218. https:\/\/doi.org\/10.3748\/wjg.v20.i39.14205","journal-title":"World J Gastroenterol"},{"issue":"10","key":"2355_CR57","doi-asserted-by":"publisher","first-page":"e1391","DOI":"10.1212\/WNL.0000000000011553","volume":"96","author":"JH Park","year":"2021","unstructured":"Park JH, Lee CW, Nam MJ, Kim H, Kwon DY, Yoo JW, Kim DH et al (2021) Association of high-density lipoprotein cholesterol variability and the risk of developing Parkinson disease. Neurology 96(10):e1391\u2013e1401. https:\/\/doi.org\/10.1212\/WNL.0000000000011553","journal-title":"Neurology"},{"issue":"5321","key":"2355_CR58","doi-asserted-by":"publisher","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","volume":"276","author":"MH Polymeropoulos","year":"1997","unstructured":"Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Nussbaum RL et al (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson\u2019s disease. Science 276(5321):2045\u20132047. https:\/\/doi.org\/10.1126\/science.276.5321.2045","journal-title":"Science"},{"issue":"3","key":"2355_CR59","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1001\/archneurol.2011.2675","volume":"69","author":"AK Reeve","year":"2012","unstructured":"Reeve AK, Park TK, Jaros E, Campbell GR, Lax NZ, Hepplewhite PD, Turnbull DM et al (2012) Relationship between mitochondria and alpha-synuclein: a study of single substantia nigra neurons. Arch Neurol 69(3):385\u2013393. https:\/\/doi.org\/10.1001\/archneurol.2011.2675","journal-title":"Arch Neurol"},{"issue":"1","key":"2355_CR60","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1038\/s41467-018-03241-9","volume":"9","author":"T Ryan","year":"2018","unstructured":"Ryan T, Bamm VV, Stykel MG, Coackley CL, Humphries KM, Jamieson-Williams R, Ryan SD et al (2018) Cardiolipin exposure on the outer mitochondrial membrane modulates alpha-synuclein. Nat Commun 9(1):817. https:\/\/doi.org\/10.1038\/s41467-018-03241-9","journal-title":"Nat Commun"},{"issue":"4","key":"2355_CR61","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1093\/jnen\/63.4.323","volume":"63","author":"Y Saito","year":"2004","unstructured":"Saito Y, Suzuki K, Hulette CM, Murayama S (2004) Aberrant phosphorylation of alpha-synuclein in human Niemann\u2013Pick type C1 disease. J Neuropathol Exp Neurol 63(4):323\u2013328. https:\/\/doi.org\/10.1093\/jnen\/63.4.323","journal-title":"J Neuropathol Exp Neurol"},{"issue":"22","key":"2355_CR62","doi-asserted-by":"publisher","first-page":"360","DOI":"10.3978\/j.issn.2305-5839.2015.12.04","volume":"3","author":"A Santos-Lozano","year":"2015","unstructured":"Santos-Lozano A, Villamandos Garcia D, Sanchis-Gomar F, Fiuza-Luces C, Pareja-Galeano H, Garatachea N, Lucia A et al (2015) Niemann\u2013Pick disease treatment: a systematic review of clinical trials. Ann Transl Med 3(22):360. https:\/\/doi.org\/10.3978\/j.issn.2305-5839.2015.12.04","journal-title":"Ann Transl Med"},{"issue":"2","key":"2355_CR63","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/s10863-014-9540-5","volume":"46","author":"S Scarlata","year":"2014","unstructured":"Scarlata S, Golebiewska U (2014) Linking alpha-synuclein properties with oxidation: a hypothesis on a mechanism underling cellular aggregation. J Bioenerg Biomembr 46(2):93\u201398. https:\/\/doi.org\/10.1007\/s10863-014-9540-5","journal-title":"J Bioenerg Biomembr"},{"issue":"3","key":"2355_CR64","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1111\/j.1471-4159.1990.tb02325.x","volume":"54","author":"AH Schapira","year":"1990","unstructured":"Schapira AH, Cooper JM, Dexter D, Clark JB, Jenner P, Marsden CD (1990) Mitochondrial complex I deficiency in Parkinson\u2019s disease. J Neurochem 54(3):823\u2013827. https:\/\/doi.org\/10.1111\/j.1471-4159.1990.tb02325.x","journal-title":"J Neurochem"},{"key":"2355_CR65","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.brainres.2014.09.046","volume":"1591","author":"J Shen","year":"2014","unstructured":"Shen J, Du T, Wang X, Duan C, Gao G, Zhang J, Yang H et al (2014) alpha-Synuclein amino terminus regulates mitochondrial membrane permeability. Brain Res 1591:14\u201326. https:\/\/doi.org\/10.1016\/j.brainres.2014.09.046","journal-title":"Brain Res"},{"issue":"5","key":"2355_CR66","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1002\/path.4328","volume":"232","author":"BR Smith","year":"2014","unstructured":"Smith BR, Santos MB, Marshall MS, Cantuti-Castelvetri L, Lopez-Rosas A, Li G, Bongarzone ER et al (2014) Neuronal inclusions of alpha-synuclein contribute to the pathogenesis of Krabbe disease. J Pathol 232(5):509\u2013521. https:\/\/doi.org\/10.1002\/path.4328","journal-title":"J Pathol"},{"issue":"11","key":"2355_CR67","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1002\/jnr.23888","volume":"94","author":"S Spassieva","year":"2016","unstructured":"Spassieva S, Bieberich E (2016) Lysosphingolipids and sphingolipidoses: psychosine in Krabbe\u2019s disease. J Neurosci Res 94(11):974\u2013981. https:\/\/doi.org\/10.1002\/jnr.23888","journal-title":"J Neurosci Res"},{"issue":"6645","key":"2355_CR68","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1038\/42166","volume":"388","author":"MG Spillantini","year":"1997","unstructured":"Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M (1997) Alpha-synuclein in Lewy bodies. Nature 388(6645):839\u2013840. https:\/\/doi.org\/10.1038\/42166","journal-title":"Nature"},{"issue":"4","key":"2355_CR69","doi-asserted-by":"publisher","first-page":"a011395","DOI":"10.1101\/cshperspect.a011395","volume":"5","author":"JD Stumpf","year":"2013","unstructured":"Stumpf JD, Saneto RP, Copeland WC (2013) Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol 5(4):a011395. https:\/\/doi.org\/10.1101\/cshperspect.a011395","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2355_CR70","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/s40478-016-0298-3","volume":"4","author":"H Sumi-Akamaru","year":"2016","unstructured":"Sumi-Akamaru H, Beck G, Shinzawa K, Kato S, Riku Y, Yoshida M, Mochizuki H et al (2016) High expression of alpha-synuclein in damaged mitochondria with PLA2G6 dysfunction. Acta Neuropathol Commun 4:27. https:\/\/doi.org\/10.1186\/s40478-016-0298-3","journal-title":"Acta Neuropathol Commun"},{"issue":"24","key":"2355_CR71","doi-asserted-by":"publisher","first-page":"476","DOI":"10.21037\/atm.2018.11.39","volume":"6","author":"A Sun","year":"2018","unstructured":"Sun A (2018) Lysosomal storage disease overview. Ann Transl Med 6(24):476. https:\/\/doi.org\/10.21037\/atm.2018.11.39","journal-title":"Ann Transl Med"},{"issue":"4","key":"2355_CR72","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1097\/00001756-200303240-00004","volume":"14","author":"K Suzuki","year":"2003","unstructured":"Suzuki K, Iseki E, Katsuse O, Yamaguchi A, Katsuyama K, Aoki I, Kosaka K et al (2003) Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. NeuroReport 14(4):551\u2013554. https:\/\/doi.org\/10.1097\/00001756-200303240-00004","journal-title":"NeuroReport"},{"issue":"5","key":"2355_CR73","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1007\/s00401-007-0264-z","volume":"114","author":"K Suzuki","year":"2007","unstructured":"Suzuki K, Iseki E, Togo T, Yamaguchi A, Katsuse O, Katsuyama K, Hirayasu Y et al (2007) Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol 114(5):481\u2013489. https:\/\/doi.org\/10.1007\/s00401-007-0264-z","journal-title":"Acta Neuropathol"},{"issue":"9","key":"2355_CR74","doi-asserted-by":"publisher","first-page":"1698","DOI":"10.1212\/01.wnl.0000238963.07425.d5","volume":"67","author":"W Tiangyou","year":"2006","unstructured":"Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ, Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67(9):1698\u20131700. https:\/\/doi.org\/10.1212\/01.wnl.0000238963.07425.d5","journal-title":"Neurology"},{"issue":"Pt 8","key":"2355_CR75","doi-asserted-by":"publisher","first-page":"2393","DOI":"10.1093\/brain\/awt103","volume":"136","author":"C Tzoulis","year":"2013","unstructured":"Tzoulis C, Tran GT, Schwarzlmuller T, Specht K, Haugarvoll K, Balafkan N, Bindoff LA et al (2013) Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain 136(Pt 8):2393\u20132404. https:\/\/doi.org\/10.1093\/brain\/awt103","journal-title":"Brain"},{"issue":"3","key":"2355_CR76","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/90034","volume":"28","author":"G Van Goethem","year":"2001","unstructured":"Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28(3):211\u2013212. https:\/\/doi.org\/10.1038\/90034","journal-title":"Nat Genet"},{"issue":"12","key":"2355_CR77","doi-asserted-by":"publisher","first-page":"1811","DOI":"10.1212\/01.wnl.0000098997.23471.65","volume":"61","author":"G Van Goethem","year":"2003","unstructured":"Van Goethem G, Mercelis R, Lofgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C (2003) Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 61(12):1811\u20131813. https:\/\/doi.org\/10.1212\/01.wnl.0000098997.23471.65","journal-title":"Neurology"},{"issue":"7","key":"2355_CR78","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1212\/01.wnl.0000140494.58732.83","volume":"63","author":"G Van Goethem","year":"2004","unstructured":"Van Goethem G, Luoma P, Rantamaki M, Al Memar A, Kaakkola S, Hackman P, Van Broeckhoven C et al (2004) POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63(7):1251\u20131257. https:\/\/doi.org\/10.1212\/01.wnl.0000140494.58732.83","journal-title":"Neurology"},{"issue":"4","key":"2355_CR79","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1023\/a:1022575511354","volume":"24","author":"MT Vanier","year":"1999","unstructured":"Vanier MT (1999) Lipid changes in Niemann\u2013Pick disease type C brain: personal experience and review of the literature. Neurochem Res 24(4):481\u2013489. https:\/\/doi.org\/10.1023\/a:1022575511354","journal-title":"Neurochem Res"},{"issue":"6","key":"2355_CR80","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1111\/j.1528-1167.2008.01877.x","volume":"50","author":"NI Wolf","year":"2009","unstructured":"Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Bast T et al (2009) Status epilepticus in children with Alpers\u2019 disease caused by POLG1 mutations: EEG and MRI features. Epilepsia 50(6):1596\u20131607. https:\/\/doi.org\/10.1111\/j.1528-1167.2008.01877.x","journal-title":"Epilepsia"},{"issue":"1","key":"2355_CR81","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1111\/jnc.14312","volume":"145","author":"Y Xiao","year":"2018","unstructured":"Xiao Y, Chen X, Huang S, Li G, Mo M, Zhang L, Xu P et al (2018) Iron promotes alpha-synuclein aggregation and transmission by inhibiting TFEB-mediated autophagosome-lysosome fusion. J Neurochem 145(1):34\u201350. https:\/\/doi.org\/10.1111\/jnc.14312","journal-title":"J Neurochem"},{"key":"2355_CR82","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.cca.2013.11.026","volume":"429","author":"XH Yu","year":"2014","unstructured":"Yu XH, Jiang N, Yao PB, Zheng XL, Cayabyab FS, Tang CK (2014) NPC1, intracellular cholesterol trafficking and atherosclerosis. Clin Chim Acta 429:69\u201375. https:\/\/doi.org\/10.1016\/j.cca.2013.11.026","journal-title":"Clin Chim Acta"},{"issue":"12","key":"2355_CR83","doi-asserted-by":"publisher","first-page":"e82879","DOI":"10.1371\/journal.pone.0082879","volume":"8","author":"M Zech","year":"2013","unstructured":"Zech M, Nubling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Winkelmann J et al (2013) Niemann\u2013Pick C disease gene mutations and age-related neurodegenerative disorders. PLoS ONE 8(12):e82879. https:\/\/doi.org\/10.1371\/journal.pone.0082879","journal-title":"PLoS ONE"},{"issue":"1","key":"2355_CR84","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1093\/jnen\/60.1.49","volume":"60","author":"M Zervas","year":"2001","unstructured":"Zervas M, Dobrenis K, Walkley SU (2001) Neurons in Niemann\u2013Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol 60(1):49\u201364. https:\/\/doi.org\/10.1093\/jnen\/60.1.49","journal-title":"J Neuropathol Exp Neurol"},{"key":"2355_CR85","doi-asserted-by":"publisher","first-page":"10332","DOI":"10.1038\/ncomms10332","volume":"7","author":"Q Zhou","year":"2016","unstructured":"Zhou Q, Yen A, Rymarczyk G, Asai H, Trengrove C, Aziz N, Bolotina VM et al (2016) Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson\u2019s disease. Nat Commun 7:10332. https:\/\/doi.org\/10.1038\/ncomms10332","journal-title":"Nat Commun"},{"issue":"1","key":"2355_CR86","doi-asserted-by":"publisher","first-page":"92 e110","DOI":"10.1016\/j.neuron.2017.12.012","volume":"97","author":"F Zunke","year":"2018","unstructured":"Zunke F, Moise AC, Belur NR, Gelyana E, Stojkovska I, Dzaferbegovic H, Mazzulli JR et al (2018) Reversible conformational conversion of alpha-synuclein into toxic assemblies by glucosylceramide. Neuron 97(1):92 e110-107 e110. https:\/\/doi.org\/10.1016\/j.neuron.2017.12.012","journal-title":"Neuron"}],"container-title":["Journal of Neural Transmission"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-021-02355-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00702-021-02355-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-021-02355-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T18:42:53Z","timestamp":1634755373000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00702-021-02355-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,30]]},"references-count":86,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["2355"],"URL":"https:\/\/doi.org\/10.1007\/s00702-021-02355-7","relation":{},"ISSN":["0300-9564","1435-1463"],"issn-type":[{"value":"0300-9564","type":"print"},{"value":"1435-1463","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,30]]},"assertion":[{"value":"21 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declaration"}},{"value":"The authors declare they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}