Genotype–phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia
نویسندگان
چکیده
منابع مشابه
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ...
متن کاملearly-onset friedreich's ataxia with oculomotor apraxia
friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...
متن کاملCongenital ocular motor apraxia
Congenital ocular motor apraxia, described in 1952 by Professor David Cogan, is characterized by defective or absent voluntary and optically induced horizontal saccades and compensatory jerky head movements or thrusts to accomplish ocular refixation (1-3). The most common initial sign is the inability to follow objects visually. The diagnosis is usually made between the fourth and eighth months...
متن کاملCongenital ocular motor apraxia.
Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly w...
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...
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ژورنال
عنوان ژورنال: Brain
سال: 2011
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awr069