Spinocerebellar ataxia 13 and 25.

Giovanni Stevanin, Alexandra Dürr
Handbook of Clinical Neurology. 2012-01-01; : 549-553
DOI: 10.1016/B978-0-444-51892-7.00035-8

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1. Handb Clin Neurol. 2012;103:549-53. doi: 10.1016/B978-0-444-51892-7.00035-8.

Spinocerebellar ataxia 13 and 25.

Stevanin G(1), Dürr A.

Author information:
(1)Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l’Institut du
Cerveau et de la Moelle épinière, UMR-S975, Paris, France.

Spinocerebellar ataxia (SCA) types 13 and 25 are two genetic entities among the
autosomal dominant cerebellar ataxias, initially mapped in two French families to
chromosomes 19q and 2p, respectively. The SCA13 locus was confirmed by the
identification of a second kindred of Filipino ancestry. SCA13 patients have
cerebellar ataxia of adult onset, or of early onset when associated with mental
impairment. SCA25 patients present with cerebellar ataxia with sensory neuropathy
and frequent gastrointestinal features. While the gene responsible for SCA25 is
still unknown, missense mutations affecting the potassium channel KCNC3 function
have been identified.

2012 Elsevier B.V. All rights reserved.

DOI: 10.1016/B978-0-444-51892-7.00035-8
PMID: 21827913 [Indexed for MEDLINE]

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