{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T13:01:20Z","timestamp":1793278880565,"version":"4.5.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. We set out for an electrophysiological characterisation of motor and sensory tracts in patients with HSP.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We clinically and electrophysiologically examined a cohort of 128 patients with genetically confirmed or clinically probable HSP. Motor evoked potentials (MEPs) to arms and legs, somato-sensory evoked potentials of median and tibial nerves, and nerve conduction studies of tibial, ulnar, sural, and radial nerves were assessed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Whereas all patients showed clinical signs of spastic paraparesis, MEPs were normal in 27% of patients and revealed a broad spectrum with axonal or demyelinating features in the others. This heterogeneity can at least in part be explained by different underlying genotypes, hinting for distinct pathomechanisms in HSP subtypes. In the largest subgroup, <jats:italic>SPG4<\/jats:italic>, an axonal type of damage was evident. Comprehensive electrophysiological testing disclosed a more widespread affection of long fibre tracts involving peripheral nerves and the sensory system in 40%, respectively. Electrophysiological abnormalities correlated with the severity of clinical symptoms.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Whereas HSP is primarily considered as an upper motoneuron disorder, our data suggest a more widespread affection of motor and sensory tracts in the central and peripheral nervous system as a common finding in HSP. The distribution patterns of electrophysiological abnormalities were associated with distinct HSP genotypes and could reflect different underlying pathomechanisms. Electrophysiological measures are independent of symptomatic treatment and may therefore serve as a reliable biomarker in upcoming HSP trials.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-8-158","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T09:39:05Z","timestamp":1381484345000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)"],"prefix":"10.1186","volume":"8","author":[{"given":"Kathrin N","family":"Karle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Klebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Frischholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Liepelt-Scarfone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,10,9]]},"reference":[{"key":"654_CR1","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1007\/BF02224539","volume":"10","author":"A Str\u00fcmpell","year":"1880","unstructured":"Str\u00fcmpell A: Beitr\u00e4ge zur Pathologie des R\u00fcckenmarks I. Spastische Spinalparalysen. Arch Psychiatr Nervenkr. 1880, 10: 676-717. 10.1007\/BF02224539.","journal-title":"Arch Psychiatr Nervenkr"},{"key":"654_CR2","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1136\/jnnp.44.10.871","volume":"44","author":"AE Harding","year":"1981","unstructured":"Harding AE: Hereditary \"pure\" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981, 44: 871-883. 10.1136\/jnnp.44.10.871.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"654_CR3","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/nrn2990","volume":"12","author":"C Blackstone","year":"2011","unstructured":"Blackstone C, O'Kane CJ, Reid E: Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci. 2011, 12: 31-42.","journal-title":"Nat Rev Neurosci"},{"key":"654_CR4","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1055\/s-0031-1299787","volume":"31","author":"R Schule","year":"2011","unstructured":"Schule R, Schols L: Genetics of hereditary spastic paraplegias. Semin Neurol. 2011, 31: 484-493. 10.1055\/s-0031-1299787.","journal-title":"Semin Neurol"},{"key":"654_CR5","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1007\/BF02283021","volume":"7","author":"F Brignolio","year":"1986","unstructured":"Brignolio F, Leone M, Tribolo A, Rosso MG, Meineri P, Schiffer D: Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy. Ital J Neurol Sci. 1986, 7: 431-435. 10.1007\/BF02283021.","journal-title":"Ital J Neurol Sci"},{"issue":"Pt 2","key":"654_CR6","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1093\/brain\/114.2.855","volume":"114","author":"JM Polo","year":"1991","unstructured":"Polo JM, Calleja J, Combarros O, Berciano J: Hereditary ataxias and paraplegias in Cantabria Spain. An epidemiological and clinical study. Brain. 1991, 114 (Pt 2): 855-866.","journal-title":"Brain"},{"key":"654_CR7","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1093\/brain\/124.10.1939","volume":"124","author":"H Fujigasaki","year":"2001","unstructured":"Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Durr A, Brice A: CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain. 2001, 124: 1939-1947. 10.1093\/brain\/124.10.1939.","journal-title":"Brain"},{"key":"654_CR8","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/ana.410280109","volume":"28","author":"D Claus","year":"1990","unstructured":"Claus D, Waddy HM, Harding AE, Murray NM, Thomas PK: Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol. 1990, 28: 43-49. 10.1002\/ana.410280109.","journal-title":"Ann Neurol"},{"key":"654_CR9","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1136\/jnnp.54.12.1099","volume":"54","author":"L Pelosi","year":"1991","unstructured":"Pelosi L, Lanzillo B, Perretti A, Santoro L, Blumhardt L, Caruso G: Motor and somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1991, 54: 1099-1102. 10.1136\/jnnp.54.12.1099.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"654_CR10","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1136\/jnnp.54.9.775","volume":"54","author":"W Schady","year":"1991","unstructured":"Schady W, Dick JP, Sheard A, Crampton S: Central motor conduction studies in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1991, 54: 775-779. 10.1136\/jnnp.54.9.775.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"654_CR11","doi-asserted-by":"publisher","first-page":"1417","DOI":"10.1016\/j.clinph.2010.12.033","volume":"122","author":"N Lang","year":"2011","unstructured":"Lang N, Optenhoefel T, Deuschl G, Klebe S: Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia. Clin Neurophysiol. 2011, 122: 1417-1420. 10.1016\/j.clinph.2010.12.033.","journal-title":"Clin Neurophysiol"},{"key":"654_CR12","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1136\/jnnp.40.6.611","volume":"40","author":"JG McLeod","year":"1977","unstructured":"McLeod JG, Morgan JA, Reye C: Electrophysiological studies in familial spastic paraplegia. J Neurol Neurosurg Psychiatry. 1977, 40: 611-615. 10.1136\/jnnp.40.6.611.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Pt 3","key":"654_CR13","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1093\/brain\/113.3.709","volume":"113","author":"W Schady","year":"1990","unstructured":"Schady W, Sheard A: A quantitative study of sensory function in hereditary spastic paraplegia. Brain. 1990, 113 (Pt 3): 709-720.","journal-title":"Brain"},{"key":"654_CR14","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1136\/jnnp.44.3.243","volume":"44","author":"PK Thomas","year":"1981","unstructured":"Thomas PK, Jefferys JG, Smith IS, Loulakakis D: Spinal somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1981, 44: 243-246. 10.1136\/jnnp.44.3.243.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"654_CR15","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1212\/01.WNL.0000058769.75218.69","volume":"60","author":"T Schulte","year":"2003","unstructured":"Schulte T, Miterski B, Bornke C, Przuntek H, Epplen JT, Schols L: Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia. Neurology. 2003, 60: 1529-1532. 10.1212\/01.WNL.0000058769.75218.69.","journal-title":"Neurology"},{"key":"654_CR16","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1136\/jnnp.74.8.1109","volume":"74","author":"D Bonsch","year":"2003","unstructured":"Bonsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J: Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene. J Neurol Neurosurg Psychiatry. 2003, 74: 1109-1112. 10.1136\/jnnp.74.8.1109.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"654_CR17","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","volume":"67","author":"R Schule","year":"2006","unstructured":"Schule R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schols L: The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology. 2006, 67: 430-434. 10.1212\/01.wnl.0000228242.53336.90.","journal-title":"Neurology"},{"key":"654_CR18","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1007\/s11910-996-0011-1","volume":"6","author":"JK Fink","year":"2006","unstructured":"Fink JK: Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006, 6: 65-76. 10.1007\/s11910-996-0011-1.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"654_CR19","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.expneurol.2012.01.010","volume":"246","author":"V Timmerman","year":"2013","unstructured":"Timmerman V, Clowes VE, Reid E: Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Exp Neurol. 2013, 246: 14-25.","journal-title":"Exp Neurol"},{"key":"654_CR20","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1080\/14660820510039032","volume":"6","author":"LP Rowland","year":"2005","unstructured":"Rowland LP: Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: historical background for the first International Conference. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005, 6: 67-76.","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord"},{"key":"654_CR21","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1086\/342359","volume":"71","author":"E Eymard-Pierre","year":"2002","unstructured":"Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O: Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 2002, 71: 518-527. 10.1086\/342359.","journal-title":"Am J Hum Genet"},{"key":"654_CR22","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/ng1001-160","volume":"29","author":"Y Yang","year":"2001","unstructured":"Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, et al: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001, 29: 160-165. 10.1038\/ng1001-160.","journal-title":"Nat Genet"},{"key":"654_CR23","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1093\/brain\/awf127","volume":"125","author":"P De Jonghe","year":"2002","unstructured":"De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, et al: Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?. Brain. 2002, 125: 1320-1325. 10.1093\/brain\/awf127.","journal-title":"Brain"},{"key":"654_CR24","doi-asserted-by":"publisher","first-page":"1128","DOI":"10.1086\/421054","volume":"74","author":"YZ Chen","year":"2004","unstructured":"Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, et al: DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004, 74: 1128-1135. 10.1086\/421054.","journal-title":"Am J Hum Genet"},{"key":"654_CR25","doi-asserted-by":"publisher","first-page":"2497","DOI":"10.1093\/hmg\/dds064","volume":"21","author":"HM Blauw","year":"2012","unstructured":"Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, et al: NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet. 2012, 21: 2497-2502. 10.1093\/hmg\/dds064.","journal-title":"Hum Mol Genet"},{"key":"654_CR26","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1086\/378817","volume":"73","author":"S Rainier","year":"2003","unstructured":"Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK: NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet. 2003, 73: 967-971. 10.1086\/378817.","journal-title":"Am J Hum Genet"},{"key":"654_CR27","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/ng585","volume":"28","author":"J Magre","year":"2001","unstructured":"Magre J, Delepine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, et al: Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001, 28: 365-370. 10.1038\/ng585.","journal-title":"Nat Genet"},{"key":"654_CR28","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/ng1313","volume":"36","author":"C Windpassinger","year":"2004","unstructured":"Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, et al: Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004, 36: 271-276. 10.1038\/ng1313.","journal-title":"Nat Genet"},{"key":"654_CR29","doi-asserted-by":"publisher","first-page":"2124","DOI":"10.1093\/brain\/awh232","volume":"127","author":"J Irobi","year":"2004","unstructured":"Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, et al: The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004, 127: 2124-2130. 10.1093\/brain\/awh232.","journal-title":"Brain"},{"key":"654_CR30","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.ajhg.2010.12.003","volume":"88","author":"C Guelly","year":"2011","unstructured":"Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, et al: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet. 2011, 88: 99-105. 10.1016\/j.ajhg.2010.12.003.","journal-title":"Am J Hum Genet"},{"key":"654_CR31","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1111\/j.1468-1331.2012.03665.x","volume":"19","author":"L Leonardis","year":"2012","unstructured":"Leonardis L, Auer-Grumbach M, Papic L, Zidar J: The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. Eur J Neurol. 2012, 19: 992-998. 10.1111\/j.1468-1331.2012.03665.x.","journal-title":"Eur J Neurol"},{"key":"654_CR32","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1038\/ng758","volume":"29","author":"X Zhao","year":"2001","unstructured":"Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, et al: Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet. 2001, 29: 326-331. 10.1038\/ng758.","journal-title":"Nat Genet"},{"key":"654_CR33","doi-asserted-by":"publisher","first-page":"1456","DOI":"10.1093\/brain\/awl012","volume":"129","author":"S Klebe","year":"2006","unstructured":"Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, et al: Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006, 129: 1456-1462. 10.1093\/brain\/awl012.","journal-title":"Brain"},{"key":"654_CR34","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.ajhg.2011.06.013","volume":"89","author":"JB Riviere","year":"2011","unstructured":"Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, et al: KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011, 89: 219-230. 10.1016\/j.ajhg.2011.06.013.","journal-title":"Am J Hum Genet"},{"key":"654_CR35","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.ajhg.2012.05.007","volume":"91","author":"C Beetz","year":"2012","unstructured":"Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, et al: Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012, 91: 139-145. 10.1016\/j.ajhg.2012.05.007.","journal-title":"Am J Hum Genet"},{"key":"654_CR36","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1086\/505361","volume":"79","author":"S Zuchner","year":"2006","unstructured":"Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA: Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006, 79: 365-369. 10.1086\/505361.","journal-title":"Am J Hum Genet"},{"key":"654_CR37","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1136\/jnnp.37.1.8","volume":"37","author":"WM Behan","year":"1974","unstructured":"Behan WM, Maia M: Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry. 1974, 37: 8-20. 10.1136\/jnnp.37.1.8.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Suppl","key":"654_CR38","doi-asserted-by":"publisher","first-page":"S16","DOI":"10.1016\/0303-8467(92)90010-Z","volume":"94","author":"RP Bruyn","year":"1992","unstructured":"Bruyn RP: The neuropathology of hereditary spastic paraparesis. Clin Neurol Neurosurg. 1992, 94 (Suppl): S16-18.","journal-title":"Clin Neurol Neurosurg"},{"key":"654_CR39","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1111\/j.1365-2990.2004.00587.x","volume":"30","author":"GC Deluca","year":"2004","unstructured":"Deluca GC, Ebers GC, Esiri MM: The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol. 2004, 30: 576-584. 10.1111\/j.1365-2990.2004.00587.x.","journal-title":"Neuropathol Appl Neurobiol"},{"key":"654_CR40","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1093\/jnen\/62.11.1166","volume":"62","author":"SB Wharton","year":"2003","unstructured":"Wharton SB, McDermott CJ, Grierson AJ, Wood JD, Gelsthorpe C, Ince PG, Shaw PJ: The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol. 2003, 62: 1166-1177.","journal-title":"J Neuropathol Exp Neurol"},{"key":"654_CR41","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1111\/j.1471-4159.2009.06104.x","volume":"110","author":"PR Kasher","year":"2009","unstructured":"Kasher PR, De Vos KJ, Wharton SB, Manser C, Bennett EJ, Bingley M, Wood JD, Milner R, McDermott CJ, Miller CC, et al: Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. J Neurochem. 2009, 110: 34-44. 10.1111\/j.1471-4159.2009.06104.x.","journal-title":"J Neurochem"},{"key":"654_CR42","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.aanat.2008.11.003","volume":"191","author":"K Seidel","year":"2009","unstructured":"Seidel K, De Vos R, Derksen L, Bauer P, Riess O, den Dunnen W, Deller T, Hageman G, Rub U: Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP). Ann Anat. 2009, 191: 203-211. 10.1016\/j.aanat.2008.11.003.","journal-title":"Ann Anat"},{"key":"654_CR43","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1007\/s10048-012-0324-y","volume":"13","author":"KN Karle","year":"2012","unstructured":"Karle KN, Mockel D, Reid E, Schols L: Axonal transport deficit in a KIF5A (\u2212\/\u2212) mouse model. Neurogenetics. 2012, 13: 169-179. 10.1007\/s10048-012-0324-y.","journal-title":"Neurogenetics"},{"key":"654_CR44","doi-asserted-by":"publisher","first-page":"e1003066","DOI":"10.1371\/journal.pgen.1003066","volume":"8","author":"P Fuger","year":"2012","unstructured":"Fuger P, Sreekumar V, Schule R, Kern JV, Stanchev DT, Schneider CD, Karle KN, Daub KJ, Siegert VK, Flotenmeyer M, et al: Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model. PLoS Genet. 2012, 8: e1003066. 10.1371\/journal.pgen.1003066.","journal-title":"PLoS Genet"},{"key":"654_CR45","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.brainresbull.2007.06.018","volume":"74","author":"F Sartucci","year":"2007","unstructured":"Sartucci F, Tovani S, Murri L, Sagliocco L: Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4. Brain Res Bull. 2007, 74: 243-249. 10.1016\/j.brainresbull.2007.06.018.","journal-title":"Brain Res Bull"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-8-158.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T01:40:08Z","timestamp":1630546808000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-8-158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,9]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["654"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-8-158","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,9]]},"assertion":[{"value":"5 June 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 October 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"158"}}