FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion.

Bäumer, D; East, SZ; Tseu, B; Zeman, A; Hilton, D; Talbot, K; Ansorge, O

Abstract:

Polyglutamine expansions in the ataxin-2 gene (ATXN2) cause autosomal dominant spinocerebellar ataxia type 2 (SCA2), but have recently also been associated with amyotrophic lateral sclerosis (ALS). We present clinical and pathological features of a family in which a pathological ATXN2 expansion led to frontotemporal lobar degeneration with ALS (FTLD-ALS) in the index case, but typical SCA2 in a son, and compare the neuropathology with a case of typical SCA2. The index case shares the molecula...

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APA Style

Bäumer, D., East, S. Z., Tseu, B., Zeman, A., Hilton, D., Talbot, K., & Ansorge, O. (2014). FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion. Acta Neuropathologica, 128(4), 597–604.

MLA Style

Bäumer, D., et al. “FTLD-ALS of TDP-43 Type and SCA2 in a Family with a Full Ataxin-2 Polyglutamine Expansion.” Acta Neuropathologica, vol. 128, no. 4, 2014, pp. 597–604.

Chicago Style

Bäumer, D, SZ East, B Tseu, A Zeman, D Hilton, K Talbot, and O Ansorge. 2014. “FTLD-ALS of TDP-43 Type and SCA2 in a Family with a Full Ataxin-2 Polyglutamine Expansion.” Acta Neuropathologica 128 (4): 597–604.
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