نتایج جستجو برای: aoa1
تعداد نتایج: 38 فیلتر نتایج به سال:
ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...
Sir, We are grateful for the opportunity to respond to the correspondence from Oegema et al. (2013) and we thank the authors for their interest in our recent review article discussing the three known neurological disorders associated with defective single strand break repair, namely ataxia oculomotor apraxia 1 (AOA1), spinocerebellar ataxia with neuronal neuropathy 1 (SCAN1) and microcephaly, e...
Dear Editor, Ataxia with oculomotor apraxia type 1 (AOA1, MIM 208920) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, polyneuropathy, oculomotor apraxia, hypoalbuminemia, and hypercholesterolemia.1 It is caused by pathogenic variants of APTX, which encodes the aprataxin protein that is involved in DNA strand-break repair.1 We recruited a consanguineous family ...
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...
OBJECTIVES/BACKGROUND Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms, the patients also share common clinical signs, such as the presence of cereb...
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...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید