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...
متن کاملA family with hereditary ataxia.
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 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...
متن کاملAutosomal dominant hereditary ataxia in Sri Lanka
BACKGROUND Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genet...
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1892
ISSN: 0022-3018
DOI: 10.1097/00005053-189209000-00014