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Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL. Zesiewicz TA, et al. Neurology. 2018 Mar 6;90(10):464-471. doi: 10.1212/WNL.0000000000005055. Epub 2018 Feb 9. Neurology. 2018. PMID: 29440566 Free PMC article.
For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). ...For patients with SCA type 3 who are ambulatory, lithium probably does not improve signs of ataxia ov …
For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at …
Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review.
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N. Yap KH, et al. J Neurol. 2022 May;269(5):2315-2337. doi: 10.1007/s00415-021-10874-2. Epub 2021 Nov 6. J Neurol. 2022. PMID: 34743220 Review.
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. ...Ten therapies had Level B recommendations for managing ataxia symp …
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inhe …
Genotype-phenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3.
Du YC, Dong Y, Cheng HL, Li QF, Yang L, Shao YR, Ma Y, Ni W, Gan SR, Wu ZY. Du YC, et al. Parkinsonism Relat Disord. 2020 Sep;78:116-121. doi: 10.1016/j.parkreldis.2020.07.024. Epub 2020 Aug 4. Parkinsonism Relat Disord. 2020. PMID: 32814229
INTRODUCTION: Due to diverse symptoms of spinocerebellar ataxia type 3 (SCA3) and the high prevalence of SCA3 in China, a more in-depth study of Chinese SCA3 patients in a large cohort is well merited. ...Limb ataxia and pyramidal impairment occurred less in …
INTRODUCTION: Due to diverse symptoms of spinocerebellar ataxia type 3 (SCA3) and the high prevalence of SCA3 in China, a more …
Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG. Domingues BMD, et al. Cerebellum. 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y. Cerebellum. 2019. PMID: 31377949
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. ...The most common clinical presentation of SCA10 was pure cerebellar ataxia …
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebella …
Pancreatic cancer screening in high-risk individuals with germline genetic mutations.
DaVee T, Coronel E, Papafragkakis C, Thaiudom S, Lanke G, Chakinala RC, Nogueras González GM, Bhutani MS, Ross WA, Weston BR, Lee JH. DaVee T, et al. Gastrointest Endosc. 2018 Jun;87(6):1443-1450. doi: 10.1016/j.gie.2017.12.019. Epub 2018 Jan 5. Gastrointest Endosc. 2018. PMID: 29309780
High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis). Patients without germline mutations were excluded. RESULTS: In t …
High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), A …
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.
Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. Beaudin M, et al. Cerebellum. 2019 Dec;18(6):1098-1125. doi: 10.1007/s12311-019-01052-2. Cerebellum. 2019. PMID: 31267374 Free PMC article. Review.
These primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinical approach to the patient presenting with ataxia. We also identified a list of 48 complex multisystem disorders that are asso …
These primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinic …
Nerve growth factor for the treatment of spinocerebellar ataxia type 3: an open-label study.
Tan S, Wang RH, Niu HX, Shi CH, Mao CY, Zhang R, Song B, Sun SL, Liu XJ, Hou HM, Liu YT, Gao Y, Fang H, Kong XD, Xu YM. Tan S, et al. Chin Med J (Engl). 2015 Feb 5;128(3):291-4. doi: 10.4103/0366-6999.150087. Chin Med J (Engl). 2015. PMID: 25635421 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCA worldwide, and runs a slowly progressive and unremitting disease course. ...Growing evidence has suggested that nerve growth factor (NGF) may have therapeutic effects in neurod …
BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCA worldwide, and runs a slowly progressive an …
Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.
Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, Pascual SI, de Yébenes JG, Sobrido MJ. Bettencourt C, et al. Hum Mutat. 2012 Sep;33(9):1315-23. doi: 10.1002/humu.22148. Epub 2012 Jul 16. Hum Mutat. 2012. PMID: 22753388 Review.
Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). Th …
Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spa …
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
Zühlke C, Dalski A, Schwinger E, Finckh U. Zühlke C, et al. BMC Med Genet. 2005 Jul 1;6:27. doi: 10.1186/1471-2350-6-27. BMC Med Genet. 2005. PMID: 15989694 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main transcription factor. Observed pathogenic …
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic …
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