Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy. The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few yea...

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Veröffentlicht in:	Journal of child neurology 2005-06, Vol.20 (6), p.523-525
Hauptverfasser:	Mahajnah, Muhammad, Basel-Vanagaite, Lina, Inbar, Dov, Kornreich, Liora, Weitz, Raphael, Straussberg, Rachel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Apraxias - complications Apraxias - genetics Apraxias - psychology Ataxia - complications Ataxia - genetics Ataxia - psychology Child Cognition Disorders - etiology Cognition Disorders - genetics Consanguinity DNA Mutational Analysis DNA Repair DNA-Binding Proteins - genetics Electromyography Female Humans Male Nuclear Proteins - genetics Oculomotor Nerve Diseases - complications Oculomotor Nerve Diseases - genetics Oculomotor Nerve Diseases - psychology Pedigree Siblings Zinc Fingers
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