{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T05:23:11Z","timestamp":1751001791971,"version":"3.37.3"},"reference-count":99,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T00:00:00Z","timestamp":1687478400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Parkinson\u2019s & Movement Disorder Foundation"},{"name":"Fountain Valley","award":["2012"],"award-info":[{"award-number":["2012"]}]},{"name":"Biomedical Research Institute of New Jersey"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Brain lesions exclusive to dystonia, or specific forms of it, such as isolated dystonia, have been rarely described. While the identification of distinctive intra- or extraneuronal abnormalities in childhood-onset generalized dystonia (DYT1) brains remains lacking, recent stereology-based findings demonstrated hypertrophy of neurons in the substantia nigra (SN) of DYT1-carriers manifesting dystonia (DYT1-manif) versus DYT1-carriers nonmanifesting dystonia (DYT1-nonmanif), and age-matched control subjects (C). Because other brain regions including the cerebellum (CRB) have been implicated in the pathomechanisms of dystonia, we investigated neurons of the dentate nucleus (DN), the \u201cdoor-out\u201d nucleus of the CRB. We performed systematic neuropathologic assessments and stereology-based measurements of 7 DN from DYT1-carriers (DYT1-DN; 4 DYT1-manif and 3 DYT1-nonmanif), and 5 age-matched control (C-DN) subjects. Data demonstrated larger cell body (+14.1%), nuclear (+10.6%), and nucleolar (+48.3%) volumes of DYT1-DN versus C-DN neurons. No differences in intra- and extracellular pathological indicators (\u03b2-amyloid, pTau, \u03b1-synuclein, Torsin1A, Negri, Bunina, Hirano, Marinesco, Nissl bodies, Buscaino bodies, granulovacuolar degeneration, or cerebrovascular lesions) were detected in DYT1-DN versus C-DN. Astroglial reactivity (GFAP) and microglial activation (IBA1) were observed in some DYT1-DNs. These novel findings confirm involvement of the DN and CRB in the pathogenesis of DYT1 and perhaps of other forms of isolated dystonia.<\/jats:p>","DOI":"10.1093\/jnen\/nlad044","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T22:53:13Z","timestamp":1687647193000},"page":"695-706","source":"Crossref","is-referenced-by-count":3,"title":["Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia"],"prefix":"10.1093","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5511-0950","authenticated-orcid":false,"given":"Diego","family":"Iacono","sequence":"first","affiliation":[{"name":"Neurodevelopmental Research Lab, Biomedical Research Institute of New Jersey (BRInj) , Cedar Knolls, New Jersey, USA"},{"name":"Neuropathology Research, MANA\/Biomedical Research Institute of New Jersey (BRInj) , Cedar Knolls, New Jersey, USA"},{"name":"Neuroscience Research, MidAtlantic Neonatology Associates (MANA), Department of Pediatrics, Atlantic Health System (AHS) , Morristown, New Jersey, USA"},{"name":"Department of Neurology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Peng","sequence":"additional","affiliation":[{"name":"Neurodevelopmental Research Lab, Biomedical Research Institute of New Jersey (BRInj) , Cedar Knolls, New Jersey, USA"},{"name":"Neuropathology Research, MANA\/Biomedical Research Institute of New Jersey (BRInj) , Cedar Knolls, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcie L","family":"Rabin","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, RWJBarnabas Health , Montclair, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger","family":"Kurlan","sequence":"additional","affiliation":[{"name":"The Cognitive and Research Center of New Jersey, CRCNJ , Springfield, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,6,23]]},"reference":[{"key":"2024032523523351300_nlad044-B1","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1097\/00019052-199408000-00011","article-title":"Epidemiology of movement disorders","volume":"7","author":"Tanner","year":"1994","journal-title":"Curr Opin Neurol"},{"issue":"Suppl 1","key":"2024032523523351300_nlad044-B2","doi-asserted-by":"crossref","first-page":"S162","DOI":"10.1016\/S1353-8020(11)70050-5","article-title":"Dystonia: Phenomenology","volume":"18","author":"LeDoux","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"2024032523523351300_nlad044-B3","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: A consensus update","volume":"28","author":"Albanese","year":"2013","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B4","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1097\/WCO.0000000000000114","article-title":"Dystonia: An update on phenomenology, classification, pathogenesis and treatment","volume":"27","author":"Balint","year":"2014","journal-title":"Curr Opin Neurol"},{"key":"2024032523523351300_nlad044-B5","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/S1474-4422(20)30366-5","article-title":"Dystonia: Genetics, phenomenology, and pathophysiology","volume":"19","author":"Vidailhet","year":"2020","journal-title":"Lancet Neurol"},{"key":"2024032523523351300_nlad044-B6","doi-asserted-by":"crossref","first-page":"e358","DOI":"10.1212\/NXG.0000000000000358","article-title":"Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment","volume":"5","author":"Park","year":"2019","journal-title":"Neurol Genet"},{"key":"2024032523523351300_nlad044-B7","doi-asserted-by":"crossref","first-page":"6483","DOI":"10.1007\/s00415-022-11310-9","article-title":"The epidemiology of dystonia: The Hannover epidemiology study","volume":"269","author":"Dressler","year":"2022","journal-title":"J Neurol"},{"key":"2024032523523351300_nlad044-B8","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1002\/mdc3.13524","article-title":"The prevalence of idiopathic or inherited isolated dystonia: A systematic review and meta-analysis","volume":"9","author":"Medina","year":"2022","journal-title":"Mov Disord Clin Pract"},{"key":"2024032523523351300_nlad044-B9","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng0997-40","article-title":"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein","volume":"17","author":"Ozelius","year":"1997","journal-title":"Nat Genet"},{"key":"2024032523523351300_nlad044-B10","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1093\/hmg\/7.7.1133","article-title":"De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia","volume":"7","author":"Klein","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2024032523523351300_nlad044-B11","doi-asserted-by":"crossref","first-page":"585643","DOI":"10.3389\/fmolb.2020.585643","article-title":"Resolving the TorsinA oligomerization conundrum: The glycan hypothesis","volume":"7","author":"Fercher","year":"2020","journal-title":"Front Mol Biosci"},{"key":"2024032523523351300_nlad044-B12","doi-asserted-by":"crossref","first-page":"468","DOI":"10.3390\/biom10030468","article-title":"The role of Torsin AAA+ proteins in preserving nuclear envelope integrity and safeguarding against disease","volume":"10","author":"Rampello","year":"2020","journal-title":"Biomolecules"},{"key":"2024032523523351300_nlad044-B13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.nbd.2019.03.007","article-title":"Advances in molecular and cell biology of dystonia: Focus on TorsinA","volume":"127","author":"Gonzalez-Alegre","year":"2019","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B14","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.neuron.2005.11.010","article-title":"Loss of the dystonia-associated protein TorsinA selectively disrupts the neuronal nuclear envelope","volume":"48","author":"Goodchild","year":"2005","journal-title":"Neuron"},{"key":"2024032523523351300_nlad044-B15","doi-asserted-by":"crossref","first-page":"105464","DOI":"10.1016\/j.nbd.2021.105464","article-title":"DYT-TOR1A subcellular proteomics reveals selective vulnerability of the nuclear proteome to cell stress","volume":"158","author":"Shroff","year":"2021","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B16","doi-asserted-by":"crossref","first-page":"113783","DOI":"10.1016\/j.expneurol.2021.113783","article-title":"Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits","volume":"343","author":"Wilkes","year":"2021","journal-title":"Exp Neurol"},{"key":"2024032523523351300_nlad044-B17","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/1531-8249(199911)46:5<761::AID-ANA12>3.0.CO;2-Z","article-title":"Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain","volume":"46","author":"Augood","year":"1999","journal-title":"Ann Neurol"},{"key":"2024032523523351300_nlad044-B18","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/s11910-017-0735-0","article-title":"Update on the genetics of dystonia","volume":"17","author":"Lohmann","year":"2017","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2024032523523351300_nlad044-B19","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1002\/mds.28485","article-title":"Genotype-phenotype relations for isolated dystonia genes: MDSGene systematic review","volume":"36","author":"Lange","year":"2021","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B20","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0072-9752(08)02133-7","article-title":"Chapter 33: The history of movement disorders","volume":"95","author":"Lanska","year":"2010","journal-title":"Handb Clin Neurol"},{"key":"2024032523523351300_nlad044-B21","doi-asserted-by":"crossref","first-page":"226","DOI":"10.3389\/fneur.2016.00226","article-title":"Recognizing the common origins of dystonia and the development of human movement: A Manifesto of unmet needs in isolated childhood dystonias","volume":"7","author":"Lin","year":"2016","journal-title":"Front Neurol"},{"key":"2024032523523351300_nlad044-B22","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1212\/01.wnl.0000302175.76229.f0","article-title":"Neuropathology of primary adult-onset dystonia","volume":"70","author":"Holton","year":"2008","journal-title":"Neurology"},{"key":"2024032523523351300_nlad044-B23","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3389\/fneur.2013.00007","article-title":"Neuropathological diagnostic considerations in hyperkinetic movement disorders","volume":"4","author":"den Dunnen","year":"2013","journal-title":"Front Neurol"},{"key":"2024032523523351300_nlad044-B24","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s00702-019-02030-y","article-title":"Neuropathology and pathogenesis of extrapyramidal movement disorders: A critical update. II. Hyperkinetic disorders","volume":"126","author":"Jellinger","year":"2019","journal-title":"J Neural Trans (Vienna)"},{"key":"2024032523523351300_nlad044-B25","doi-asserted-by":"crossref","first-page":"569","DOI":"10.5334\/tohm.514","article-title":"Neuropathology of dystonia","volume":"9","author":"Sharma","year":"2019","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"2024032523523351300_nlad044-B26","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.parkreldis.2018.08.020","article-title":"Hypertrophy of nigral neurons in Torsin1A deletion (DYT1) carriers manifesting dystonia","volume":"58","author":"Iacono","year":"2019","journal-title":"Parkinsonism Relat Disord"},{"key":"2024032523523351300_nlad044-B27","doi-asserted-by":"crossref","first-page":"104638","DOI":"10.1016\/j.nbd.2019.104638","article-title":"Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice","volume":"134","author":"Yokoi","year":"2020","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B28","doi-asserted-by":"crossref","first-page":"113381","DOI":"10.1016\/j.bbr.2021.113381","article-title":"Characterization of the direct pathway in Dyt1 \u0394GAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice","volume":"411","author":"Yokoi","year":"2021","journal-title":"Behav Brain Res"},{"key":"2024032523523351300_nlad044-B29","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1002\/mds.28476","article-title":"Striatal dopamine induced ERK phosphorylation is altered in mouse models of monogenic dystonia","volume":"36","author":"Melis","year":"2021","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B30","doi-asserted-by":"crossref","first-page":"105369","DOI":"10.1016\/j.nbd.2021.105369","article-title":"Cell-intrinsic effects of TorsinA(\u0394E) disrupt dopamine release in a mouse model of TOR1A dystonia","volume":"155","author":"Downs","year":"2021","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B31","doi-asserted-by":"crossref","first-page":"105699","DOI":"10.1016\/j.nbd.2022.105699","article-title":"Blockade of M4 muscarinic receptors on striatal cholinergic interneurons normalizes striatal dopamine release in a mouse model of TOR1A dystonia","volume":"168","author":"Downs","year":"2022","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B32","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.nbd.2012.04.015","article-title":"Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein torsinA","volume":"47","author":"Sciamanna","year":"2012","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B33","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1002\/mds.28698","article-title":"Vesicular acetylcholine transporter alters cholinergic tone and synaptic plasticity in DYT1 dystonia","volume":"36","author":"Tassone","year":"2021","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B34","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.brainresbull.2020.09.011","article-title":"The abnormal firing of Purkinje cells in the knockin mouse model of DYT1 dystonia","volume":"165","author":"Liu","year":"2020","journal-title":"Brain Res Bull"},{"key":"2024032523523351300_nlad044-B35","doi-asserted-by":"crossref","first-page":"4627","DOI":"10.3390\/ijms23094627","article-title":"p97\/UBXD1 generate ubiquitylated proteins that are sequestered into nuclear envelope herniations in Torsin-deficient cells","volume":"23","author":"Prophet","year":"2022","journal-title":"IJMS"},{"key":"2024032523523351300_nlad044-B36","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1186\/s40478-016-0375-7","article-title":"Tor1a+\/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury","volume":"4","author":"Ip","year":"2016","journal-title":"Acta Neuropathol Commun"},{"key":"2024032523523351300_nlad044-B37","doi-asserted-by":"crossref","first-page":"105337","DOI":"10.1016\/j.nbd.2021.105337","article-title":"The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network","volume":"154","author":"Knorr","year":"2021","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B38","doi-asserted-by":"crossref","first-page":"e142483","DOI":"10.1172\/jci.insight.142483","article-title":"CNS critical periods: Implications for dystonia and other neurodevelopmental disorders","volume":"6","author":"Li","year":"2021","journal-title":"JCI Insight"},{"key":"2024032523523351300_nlad044-B39","doi-asserted-by":"crossref","first-page":"2166","DOI":"10.1111\/ejn.12186","article-title":"Cerebellum-dependent associative learning deficits in primary dystonia are normalized by rTMS and practice","volume":"38","author":"Hoffland","year":"2013","journal-title":"Eur J Neurosci"},{"key":"2024032523523351300_nlad044-B40","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1002\/mds.28967","article-title":"A critical investigation of cerebellar associative learning in isolated dystonia","volume":"37","author":"Sadnicka","year":"2022","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B41","doi-asserted-by":"crossref","first-page":"912818","DOI":"10.3389\/fneur.2022.912818","article-title":"Direct cerebello-striatal loop in dystonia as a possible new target for deep brain stimulation: A revised view of subcortical pathways involved","volume":"13","author":"Kaji","year":"2022","journal-title":"Front Neurol"},{"key":"2024032523523351300_nlad044-B42","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/ana.410430518","article-title":"Expression of the early-onset torsion dystonia gene (DYT1) in human brain","volume":"43","author":"Augood","year":"1998","journal-title":"Ann Neurol"},{"key":"2024032523523351300_nlad044-B43","doi-asserted-by":"crossref","first-page":"e68063","DOI":"10.1371\/journal.pone.0068063","article-title":"Torsin A localization in the mouse cerebellar synaptic circuitry","volume":"8","author":"Puglisi","year":"2013","journal-title":"PLoS One"},{"key":"2024032523523351300_nlad044-B44","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.devbrainres.2005.02.019","article-title":"TorsinA expression is detectable in human infants as young as 4 weeks old","volume":"157","author":"Siegert","year":"2005","journal-title":"Brain Res Dev Brain Res"},{"key":"2024032523523351300_nlad044-B45","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1093\/brain\/awaa465","article-title":"Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia","volume":"144","author":"Mazere","year":"2021","journal-title":"Brain"},{"key":"2024032523523351300_nlad044-B46","doi-asserted-by":"crossref","first-page":"105342","DOI":"10.1016\/j.nbd.2021.105342","article-title":"Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice","volume":"154","author":"Liu","year":"2021","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B47","doi-asserted-by":"crossref","first-page":"e0226790","DOI":"10.1371\/journal.pone.0226790","article-title":"Opposing patterns of abnormal D1 and D2 receptor dependent cortico-striatal plasticity explain increased risk taking in patients with DYT1 dystonia","volume":"15","author":"Gilbertson","year":"2020","journal-title":"PLoS One"},{"key":"2024032523523351300_nlad044-B48","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/mdc3.12876","article-title":"Cerebellar deep brain stimulation for acquired hemidystonia","volume":"7","author":"Brown","year":"2020","journal-title":"Mov Disord Clin Pract"},{"key":"2024032523523351300_nlad044-B49","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.neuroscience.2010.03.007","article-title":"The human dentate nucleus: A complex shape untangled","volume":"167","author":"Sultan","year":"2010","journal-title":"Neuroscience"},{"key":"2024032523523351300_nlad044-B50","doi-asserted-by":"crossref","first-page":"14912","DOI":"10.1038\/ncomms14912","article-title":"Genetic silencing of olivocerebellar synapses causes dystonia-like behaviour in mice","volume":"8","author":"White","year":"2017","journal-title":"Nat Commun"},{"key":"2024032523523351300_nlad044-B51","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-022-01441-0","article-title":"Cerebellar dysfunction as a source of dystonic phenotypes in mice","author":"Brown","year":"2022","journal-title":"Cerebellum"},{"key":"2024032523523351300_nlad044-B52","first-page":"776","article-title":"Dystonia and cerebellum: From bench to bedside","volume":"11","author":"Morigaki","year":"2021","journal-title":"Life (Basel)"},{"key":"2024032523523351300_nlad044-B53","doi-asserted-by":"crossref","first-page":"989340","DOI":"10.3389\/fneur.2022.989340","article-title":"Increased movement-related signals in both basal ganglia and cerebellar output pathways in two children with dystonia","volume":"13","author":"Hernandez-Martin","year":"2022","journal-title":"Front Neurol"},{"key":"2024032523523351300_nlad044-B54","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.neuchi.2020.04.132","article-title":"Dentate nucleus as target for deep brain stimulation in dystono-dyskinetic syndromes","volume":"66","author":"Nicholson","year":"2020","journal-title":"Neurochirurgie"},{"key":"2024032523523351300_nlad044-B55","doi-asserted-by":"crossref","first-page":"2499","DOI":"10.1093\/brain\/awn168","article-title":"The basal ganglia and cerebellum interact in the expression of dystonic movement","volume":"131","author":"Neychev","year":"2008","journal-title":"Brain"},{"key":"2024032523523351300_nlad044-B56","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1007\/s12311-014-0601-4","article-title":"Dissecting the links between cerebellum and dystonia","volume":"13","author":"Malone","year":"2014","journal-title":"Cerebellum"},{"key":"2024032523523351300_nlad044-B57","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/s12311-016-0825-6","article-title":"Current opinions and areas of consensus on the role of the cerebellum in dystonia","volume":"16","author":"Shakkottai","year":"2017","journal-title":"Cerebellum"},{"key":"2024032523523351300_nlad044-B58","doi-asserted-by":"crossref","first-page":"919761","DOI":"10.3389\/fnsys.2022.919761","article-title":"Cerebellum involvement in dystonia during associative motor learning: Insights from a data-driven spiking network model","volume":"16","author":"Geminiani","year":"2022","journal-title":"Front Syst Neurosci"},{"key":"2024032523523351300_nlad044-B59","first-page":"tre-5-301","article-title":"Reduced number of pigmented neurons in the substantia nigra of dystonia patients? Findings from extensive neuropathologic, immunohistochemistry, and quantitative analyses","volume":"5","author":"Iacono","year":"2015","journal-title":"Tremor Other Hyperkinet Mov (NY)"},{"key":"2024032523523351300_nlad044-B60","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.neurol.2016.07.011","article-title":"Neurometabolic disorders are treatable causes of dystonia","volume":"172","author":"Kuiper","year":"2016","journal-title":"Rev Neurol (Paris)"},{"key":"2024032523523351300_nlad044-B61","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s00702-021-02314-2","article-title":"Dystonia updates: Definition, nomenclature, clinical classification, and etiology","volume":"128","author":"Gr\u00fctz","year":"2021","journal-title":"J Neural Transm (Vienna)"},{"key":"2024032523523351300_nlad044-B62","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1002\/mds.29022","article-title":"Neuropsychological functioning in primary dystonia: Updated and expanded multidomain meta-analysis","volume":"37","author":"Aita","year":"2022","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B63","doi-asserted-by":"crossref","first-page":"506","DOI":"10.5334\/tohm.383","article-title":"The anatomical basis for dystonia: The motor network model","volume":"7","author":"Jinnah","year":"2017","journal-title":"Tremor Other Hyperkinet Mov (NY)"},{"key":"2024032523523351300_nlad044-B64","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1097\/WCO.0000000000001076","article-title":"The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes","volume":"35","author":"Di Fonzo","year":"2022","journal-title":"Curr Opin Neurol"},{"key":"2024032523523351300_nlad044-B65","doi-asserted-by":"crossref","first-page":"e22775","DOI":"10.7554\/eLife.22775","article-title":"A role for cerebellum in the hereditary dystonia DYT1","volume":"6","author":"Fremont","year":"2017","journal-title":"Elife"},{"key":"2024032523523351300_nlad044-B66","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.brainresbull.2006.09.015","article-title":"Activation of cerebellar nuclei comparing finger, foot and tongue movements as revealed by fMRI","volume":"71","author":"Dimitrova","year":"2006","journal-title":"Brain Res Bull"},{"key":"2024032523523351300_nlad044-B67","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s12311-008-0060-x","article-title":"Cerebellum and detection of sequences, from perception to cognition","volume":"7","author":"Molinari","year":"2008","journal-title":"Cerebellum"},{"key":"2024032523523351300_nlad044-B68","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.neuropsychologia.2011.11.017","article-title":"Distinct critical cerebellar subregions for components of verbal working memory","volume":"50","author":"Cooper","year":"2012","journal-title":"Neuropsychologia"},{"key":"2024032523523351300_nlad044-B69","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/s12311-016-0815-8","article-title":"Consensus paper: Cerebellum and emotion","volume":"16","author":"Adamaszek","year":"2017","journal-title":"Cerebellum"},{"key":"2024032523523351300_nlad044-B70","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1007\/s12311-019-01068-8","article-title":"The cerebellar cognitive affective\/Schmahmann syndrome: A task force paper","volume":"19","author":"Argyropoulos","year":"2020","journal-title":"Cerebellum"},{"key":"2024032523523351300_nlad044-B71","doi-asserted-by":"crossref","first-page":"112000","DOI":"10.1016\/j.celrep.2023.112000","article-title":"The deep cerebellar nuclei to striatum disynaptic connection contributes to skilled forelimb movement","volume":"42","author":"Contreras-L\u00f3pez","year":"2023","journal-title":"Cell Rep"},{"key":"2024032523523351300_nlad044-B72","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1038\/nn1544","article-title":"The cerebellum communicates with the basal ganglia","volume":"8","author":"Hoshi","year":"2005","journal-title":"Nat Neurosci"},{"key":"2024032523523351300_nlad044-B73","doi-asserted-by":"crossref","first-page":"8452","DOI":"10.1073\/pnas.1000496107","article-title":"The basal ganglia communicate with the cerebellum","volume":"107","author":"Bostan","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024032523523351300_nlad044-B74","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1136\/jnnp-2017-316250","article-title":"Pathogenesis of dystonia: Is it of cerebellar or basal ganglia origin?","volume":"89","author":"Kaji","year":"2018","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2024032523523351300_nlad044-B75","doi-asserted-by":"crossref","first-page":"e18357","DOI":"10.1371\/journal.pone.0018357","article-title":"Altered dendritic morphology of Purkinje cells in Dyt1 \u0394GAG knock-in and Purkinje cell-specific Dyt1 conditional knockout mice","volume":"6","author":"Zhang","year":"2011","journal-title":"PLoS One"},{"key":"2024032523523351300_nlad044-B76","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.nbd.2013.10.003","article-title":"Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia","volume":"62","author":"Song","year":"2014","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B77","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.expneurol.2015.07.005","article-title":"Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia","volume":"271","author":"Vanni","year":"2015","journal-title":"Exp Neurol"},{"key":"2024032523523351300_nlad044-B78","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.neuroscience.2011.01.015","article-title":"The DYT1 carrier state increases energy demand in the olivocerebellar network","volume":"177","author":"Zhao","year":"2011","journal-title":"Neuroscience"},{"key":"2024032523523351300_nlad044-B79","first-page":"bhad012","article-title":"Disordered network structure and function in dystonia: Pathological connectivity vs. adaptive responses","volume":"33","author":"Vo","year":"2023","journal-title":"Cereb Cortex"},{"key":"2024032523523351300_nlad044-B80","first-page":"7721","article-title":"Cerebellar GABA change during visuomotor adaptation relates to adaptation performance and cerebellar network connectivity: A magnetic resonance spectroscopic imaging study","volume":"42","author":"Nettekoven","year":"2022","journal-title":"J Neurosci"},{"key":"2024032523523351300_nlad044-B81","doi-asserted-by":"crossref","first-page":"119908","DOI":"10.1016\/j.neuroimage.2023.119908","article-title":"Distribution of cholinergic nerve terminals in the aged human brain measured with [18F]FEOBV PET and its correlation with histological data","volume":"269","author":"Okkels","year":"2023","journal-title":"Neuroimage"},{"key":"2024032523523351300_nlad044-B82","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.nbd.2009.01.001","article-title":"Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia","volume":"34","author":"Sciamanna","year":"2009","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B83","doi-asserted-by":"crossref","first-page":"650586","DOI":"10.3389\/fcell.2021.650586","article-title":"Reduced expression of GABA A receptor Alpha2 subunit is associated with disinhibition of DYT-THAP1 dystonia patient-derived striatal medium spiny neurons","volume":"9","author":"Staege","year":"2021","journal-title":"Front Cell Dev Biol"},{"key":"2024032523523351300_nlad044-B84","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/mds.23553","article-title":"In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia","volume":"26","author":"Garibotto","year":"2011","journal-title":"Mov Disord"},{"key":"2024032523523351300_nlad044-B85","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.celrep.2017.09.079","article-title":"A role for dystonia-associated genes in spinal GABAergic interneuron circuitry","volume":"21","author":"Zhang","year":"2017","journal-title":"Cell Rep"},{"key":"2024032523523351300_nlad044-B86","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.expneurol.2017.06.005","article-title":"Strength of cholinergic tone dictates the polarity of dopamine D2 receptor modulation of striatal cholinergic interneuron excitability in DYT1 dystonia","volume":"295","author":"Scarduzio","year":"2017","journal-title":"Exp Neurol"},{"key":"2024032523523351300_nlad044-B87","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1007\/BF00228526","article-title":"Hypertrophy of dopamine neurons in the primate following ventromedial mesencephalic tegmentum lesion","volume":"87","author":"Janson","year":"1991","journal-title":"Exp Brain Res"},{"key":"2024032523523351300_nlad044-B88","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1080\/00207450590521118","article-title":"Dopamine cell morphology and glial cell hypertrophy and process branching in the nigrostriatal system after striatal 6-OHDA analyzed by specific sterological tools","volume":"115","author":"Gomide","year":"2005","journal-title":"Int J Neurosci"},{"key":"2024032523523351300_nlad044-B89","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1113\/JP275498","article-title":"The vulnerability of spinal motoneurons and soma size plasticity in a mouse model of amyotrophic lateral sclerosis","volume":"596","author":"Dukkipati","year":"2018","journal-title":"J Physiol"},{"key":"2024032523523351300_nlad044-B90","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1038\/s41556-022-01001-y","article-title":"Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities","volume":"24","author":"Prophet","year":"2022","journal-title":"Nat Cell Biol"},{"key":"2024032523523351300_nlad044-B91","doi-asserted-by":"crossref","first-page":"634214","DOI":"10.1155\/2012\/634214","article-title":"Untethering the nuclear envelope and cytoskeleton: Biologically distinct dystonias arising from a common cellular dysfunction","volume":"2012","author":"Atai","year":"2012","journal-title":"Int J Cell Biol"},{"key":"2024032523523351300_nlad044-B92","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ceb.2016.01.001","article-title":"Torsin ATPases: Structural insights and functional perspectives","volume":"40","author":"Laudermilch","year":"2016","journal-title":"Curr Opin Cell Biol"},{"key":"2024032523523351300_nlad044-B93","doi-asserted-by":"crossref","first-page":"e63614","DOI":"10.7554\/eLife.63614","article-title":"Torsin ATPases influence chromatin interaction of the Torsin regulator LAP1","volume":"9","author":"Luithle","year":"2020","journal-title":"Elife"},{"key":"2024032523523351300_nlad044-B94","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1111\/j.1471-4159.2004.02404.x","article-title":"TorsinB\u2013perinuclear location and association with torsinA","volume":"89","author":"Hewett","year":"2004","journal-title":"J Neurochem"},{"key":"2024032523523351300_nlad044-B95","doi-asserted-by":"crossref","first-page":"e33331","DOI":"10.7554\/eLife.33331","article-title":"Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum","volume":"7","author":"Maltese","year":"2018","journal-title":"Elife"},{"key":"2024032523523351300_nlad044-B96","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.nbd.2010.10.010","article-title":"Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging","volume":"42","author":"Niethammer","year":"2011","journal-title":"Neurobiol Dis"},{"key":"2024032523523351300_nlad044-B97","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.neuroscience.2008.12.041","article-title":"Abnormal structure-function relationships in hereditary dystonia","volume":"164","author":"Carbon","year":"2009","journal-title":"Neuroscience"},{"key":"2024032523523351300_nlad044-B98","doi-asserted-by":"crossref","first-page":"S9","DOI":"10.1002\/mdc3.13535","article-title":"Early-onset neurodevelopmental movement disorder secondary to novel mutation in KCNN2","volume":"9","author":"Fearon","year":"2022","journal-title":"Mov Disord Clin Pract"},{"key":"2024032523523351300_nlad044-B99","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.parkreldis.2022.08.019","article-title":"Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing","volume":"102","author":"Dzinovic","year":"2022","journal-title":"Parkinsonism Relat Disord"}],"container-title":["Journal of Neuropathology &amp; Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jnen\/article-pdf\/82\/8\/695\/50897214\/nlad044.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jnen\/article-pdf\/82\/8\/695\/50897214\/nlad044.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:41:57Z","timestamp":1711413717000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnen\/article\/82\/8\/695\/7205924"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,23]]},"references-count":99,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,6,23]]},"published-print":{"date-parts":[[2023,7,20]]}},"URL":"https:\/\/doi.org\/10.1093\/jnen\/nlad044","relation":{},"ISSN":["0022-3069","1554-6578"],"issn-type":[{"type":"print","value":"0022-3069"},{"type":"electronic","value":"1554-6578"}],"subject":[],"published-other":{"date-parts":[[2023,8,1]]},"published":{"date-parts":[[2023,6,23]]}}}