Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
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چکیده
منابع مشابه
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequen...
متن کاملAtaxia with oculomotor apraxia type 2: an evolving axonal neuropathy.
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most freq...
متن کاملCognitive Functions in Ataxia with Oculomotor Apraxia Type 2
BACKGROUND Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of...
متن کاملClinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
BACKGROUND Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by SETX mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (AFP) serum level, and occasional oculomotor apraxia. OBJECTIVE To describe the clinical and molecular findings of 7 patients with a clin...
متن کاملErratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
This corrects the article on p. 126 in vol. 12, PMID: 26541496.
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ژورنال
عنوان ژورنال: Brain
سال: 2009
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awp211