منابع مشابه
On Some Anomalous Cases of Locomotor Ataxy
Among the large number of cases of locomotor ataxy conforming to the generalised description of the disease as given in textbooks occur some which deviate from this in some way or other?either by the absence of ordinary features or by the presence of rare ones, or by the coexistence of other diseases which modify the usual clinical picture of the disease. Absence of the knee-jerks is an almost ...
متن کاملTwo Cases of Locomotor Ataxy with Charcot's Joint Disease
Physicians to the Devon and Exeter Hospital and to the Exeter Dispensary. For the reports and photographs illustrating these two interesting cases we are indebted to Mr. the following history: He had passed most of his life in
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
متن کاملhereditary 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 کاملHereditary chin trembling or hereditary chin myoclonus?
Hereditary chin trembling is a rare autosomal dominant disease often considered as an "essential tremor variant". The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus.
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1895
ISSN: 0022-3018
DOI: 10.1097/00005053-189506000-00011