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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
Journal of the Neurological Sciences, Volume 278, No. 1-2, Year 2009
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Description
Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX). We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency. In AOA2 patients, the mean age at onset for all families was in the second decade. Cerebellar ataxia was progressive, slowly leading to disability which was aggravated by axonal polyneuropathy present in almost all the patients. Mean disease duration until wheelchair was around 20 years. Oculo-motor apraxia (OMA) was present in 32% of the patients while convergent strabismus was present in 37%. Strabismus is therefore also very suggestive of AOA2 when associated with ataxia and polyneuropathy even in the absence of OMA. Cerebellar atrophy was more severe in the eldest patients; however it may also be an early sign since it was present in the youngest and paucisymptomatic patients. The initial sign was gait ataxia in all but two patients who presented with head tremor and writer cramp, respectively. Serum alpha-fetoprotein, which was elevated in all tested patients, was a good marker to suggest molecular studies of the SETX gene. © 2008 Elsevier B.V. All rights reserved.
Authors & Co-Authors
Tazir, Mériem
Algeria, Algiers
Université D’alger 1
Ali-Pacha, Lamia
Algeria, Algiers
Université D’alger 1
M'Zahem, Abderrahim
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Delaunoy, Jean Pierre
France, Strasbourg
Hopital Civil
Fritsch, Marleǹe
France, Strasbourg
Hopital Civil
Nouioua, Sonia
Algeria, Algiers
Université D’alger 1
Benhassine, Traki
Algeria, Algiers
Université Des Sciences et de la Technologie Houari Boumediene
Assami, Salima
Algeria, Algiers
Université D’alger 1
Grid, Djamel
France, Evry
Généthon
Vallat, Jean Michel
France, Limoges
Chu de Limoges
Hamri, Abdelmadjid
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Kœnig, Michel
France, Strasbourg
Hopital Civil
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
Statistics
Citations: 61
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1016/j.jns.2008.12.004
ISSN:
0022510X
Research Areas
Disability
Genetics And Genomics
Study Locations
Algeria