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

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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Publication status:
Published

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Publisher copy:
10.1007/s00401-014-1277-z

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Journal:
Acta neuropathologica
Volume:
128
Issue:
4
Pages:
597-604
Publication date:
2014-10-05
DOI:
EISSN:
1432-0533
ISSN:
0001-6322
URN:
uuid:92a7ebb6-2315-4488-9935-1c6b13e51bfc
Source identifiers:
462091
Local pid:
pubs:462091

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