In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

A. G BASSUK; Y. Z CHEN; S. D BATISH; N NAGAN; P OPAL; P. F CHANCE; C. L BENNETT

doi:10.1007/s10048-006-0067-8

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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

Journal article

Peer reviewed

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

A. G BASSUK, Y. Z CHEN, S. D BATISH, N NAGAN, P OPAL, P. F CHANCE and C. L BENNETT

Neurogenetics, Vol.8(1), pp.45-49

2007

DOI: 10.1007/s10048-006-0067-8

PMID: 17096168

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Abstract

Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor. Both patients share Senataxin mutations N603D and Q653K in cis (N603D–Q653K), adjacent to an N-terminal domain thought to function in protein–protein interaction. The N-terminal and helicase domains appear to harbor missense mutation clusters associated with AOA2 and ALS4. Working synergistically, the N603D–Q653K mutations may confer a partial dominant negative effect, acting on the senataxin N-terminal, further expanding the phenotypic spectrum associated with Senataxin mutations.

Neurology

Fundamental and applied biological sciences. Psychology

Vertebrates: nervous system and sense organs

Biological and medical sciences

Nervous system as a whole

Molecular and cellular biology

Genetics of eukaryotes. Biological and molecular evolution

Medical sciences

Nervous system (semeiology, syndromes)

Details

Title: Subtitle: In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome
Creators: A. G BASSUK - Department of Neurology, Northwestern University's Feinberg School of Medicine, Chicago, IL, United States
Y. Z CHEN - Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, United States
S. D BATISH - Athena Diagnostics Incorporated, Worcester, MA, United States
N NAGAN - Athena Diagnostics Incorporated, Worcester, MA, United States
P OPAL - Department of Pediatrics, Northwestern University's Feinberg School of Medicine, Chicago, IL, United States
P. F CHANCE - Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, United States
C. L BENNETT - Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, United States
Resource Type: Journal article
Publication Details: Neurogenetics, Vol.8(1), pp.45-49
Publisher: Springer; Berlin
DOI: 10.1007/s10048-006-0067-8
PMID: 17096168
ISSN: 1364-6745
eISSN: 1364-6753
Language: English
Date published: 2007
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984020756802771

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