The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum

Author:

Olmos Victor,Gogia Neha,Luttik Kimberly,Haidery Fatema,Lim JanghooORCID

Funder

National Institute on Aging

National Institute of Neurological Disorders and Stroke

National Institute of Mental Health

Yale University

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Cellular and Molecular Neuroscience,Pharmacology,Molecular Biology,Molecular Medicine

Reference89 articles.

1. Orr HT, Chung MYI, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221–226

2. Zoghbi HY, Orr HT (2009) Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, Spinocerebellar ataxia type 1. J Biol Chem 284:7425–7429

3. Ruano L, Melo C, Silva MC, Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174–183

4. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Spinocerebellar Ataxias 3:291–304

5. Ranum LPW, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R et al (1994) Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset. Am J Hum Genet 55:244–252

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