Choline in hereditary ataxia.
نویسندگان
چکیده
منابع مشابه
hereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
متن کاملTitubation in hereditary ataxia.
"AS THE DISEASE progresses some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea". This is how Gowers in 1899 described the occurrence of titubation in hereditary ataxy in his book on the diseases of the nervous system. But this feature of hereditary ataxia seems to have r...
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An Indian family with four members having hereditary ataxia was presented. The inheritance was most likely autosomal dominant. The onset was at adult life. The main disability was cerebellar ataxia with pyramidal tract sign found at physical examination. Electroencephalography and nerve conduction study were abnormal in two cases where they were done. The clinical feature correspond to an inter...
متن کاملHereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
متن کاملGenetics of Hereditary Ataxia in Scottish Terriers
BACKGROUND Scottish Terriers have a high incidence of juvenile onset hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex and causing slowly progressive cerebellar dysfunction. OBJECTIVE To identify chromosomal regions associated with hereditary ataxia in Scottish Terriers. ANIMALS One hundred and fifty-three Scottish Terriers were recruited through the Scottis...
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ژورنال
عنوان ژورنال: BMJ
سال: 1979
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.2.6190.613