Ataxia with Oculomotor Apraxia Type 1-New Mutation, Characteristic Phenotype
نویسندگان
چکیده
منابع مشابه
Erratum 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.
متن کاملAtaxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report.
Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar ataxia, oculomotor apraxia (OMA), and peripheral axonal sensorimotor neuropathy.1 Dystonia, chorea, and cognitive impairment are commonly associated symptoms, and hypoalbuminemia and hypercholesterolemia are often ...
متن کاملA Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease
Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...
متن کاملAtaxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation
Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are...
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...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2019
ISSN: 2330-1619
DOI: 10.1002/mdc3.12725