Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients

Abstract 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 f...

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Veröffentlicht in:	Journal of the neurological sciences 2009-03, Vol.278 (1), p.77-81
Hauptverfasser:	Tazir, M, Ali-Pacha, L, M'Zahem, A, Delaunoy, J.P, Fritsch, M, Nouioua, S, Benhassine, T, Assami, S, Grid, D, Vallat, J.M, Hamri, A, Koenig, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Alpha-fetoprotein alpha-Fetoproteins alpha-Fetoproteins - analysis Apraxias Apraxias - complications Apraxias - genetics Apraxias - pathology Apraxias - physiopathology Ataxia with oculo-motor apraxia type 2 Atrophy Axonal polyneuropathy Biochemistry, Molecular Biology Biological and medical sciences Cerebellar Ataxia Cerebellar Ataxia - complications Cerebellar Ataxia - genetics Cerebellar Ataxia - pathology Cerebellar Ataxia - physiopathology Cerebellar atrophy Cerebellum Cerebellum - pathology Cerebellum - physiopathology Clinical phenotype Disease Progression DNA Mutational Analysis Female Genetics Genomics Human genetics Human health and pathology Humans Life Sciences Male Medical sciences Molecular biology Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation Nerve Fibers, Myelinated Nerve Fibers, Myelinated - pathology Neural Conduction Neurobiology Neurology Neurons and Cognition Ocular Motility Disorders Ocular Motility Disorders - complications Ocular Motility Disorders - genetics Ocular Motility Disorders - pathology Ocular Motility Disorders - physiopathology Pedigree Phenotype RNA Helicases RNA Helicases - genetics Senataxin gene Young Adult
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