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01-09-2011 | Correspondence

Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology

Authors: Yasuko Toyoshima, Hajime Tanaka, Mitsuteru Shimohata, Kakuhei Kimura, Takashi Morita, Akiyoshi Kakita, Hitoshi Takahashi

Published in: Acta Neuropathologica | Issue 3/2011

Excerpt

Abnormality of the nuclear protein TDP-43 is associated with amyotrophic lateral sclerosis (ALS), a usually sporadic, fatal neurological disease. Recently, the yeast ortholog of ataxin 2, Pbp 1, was shown to enhance the toxicity of TDP-43 [1], and ataxin 2 intermediate-length polyglutamine (polyQ) expansions were found to be associated with ALS [1, 2]. Ataxin 2 is a polyQ protein that is mutated in spinocerebellar ataxia type 2 (SCA2), an autosomal-dominant neurological disease, by an expansion of CAG repeats in the SCA2 gene (ATXN2). …

Elden AC, Kim HJ, Hart MP et al (2010) Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466:1069–1075PubMedCrossRef

Lee T, Li YR, Ingre C et al (2011) Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 20:1697–1700PubMedCrossRef

Nishihira Y, Tan CF, Onodere O et al (2008) Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic and glial cytoplasmic inclusions. Acta Neuropathol 116:169–182PubMedCrossRef

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Title: Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology
Authors: Yasuko Toyoshima
Hajime Tanaka
Mitsuteru Shimohata
Kakuhei Kimura
Takashi Morita
Akiyoshi Kakita
Hitoshi Takahashi
Publication date: 01-09-2011
Publisher: Springer-Verlag
Published in: Acta Neuropathologica / Issue 3/2011
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-011-0862-7

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Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology

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