Hereditary spastic ataxia with congenital miosis: four cases in one family.
نویسندگان
چکیده
منابع مشابه
A 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...
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In 1929 Ferguson and Critchley published a detailed clinical study of a family, many members of which suffered from a disease resembling disseminated sclerosis. As far as Ferguson and Critchley could discover the syndrome described had not been recorded previously. The average age of onset was 35 to 45 years and the initial symptoms were weakness and unsteadiness of the legs, followed by dysart...
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متن کاملHereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype.
BACKGROUND Clinical descriptions of the dominantly inherited ataxic motor syndromes in a 7-generation family of German origin were first reported in 1951. OBJECTIVE To provide follow-up clinical, pathological, and genetic data for 9 patients in this family. DESIGN Clinical histories and neurologic findings, gross and microscopic pathological features, and DNA analysis. RESULTS Clinical pr...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1983
ISSN: 0007-1161
DOI: 10.1136/bjo.67.2.97