منابع مشابه
Familial Periodic Paralysis
An interesting case of familial periodic paralysis came under my care quite recently and incidentally illustrated the hereditary nature of the disease. As the condition is so rare, a resume of the main features of the disease may be given. The disease is seldom seen; only 200 cases have been reported so far. It is characterized by a temporary flaccid paralysis of the muscles of the extremities ...
متن کاملFamilial Periodic Paralysis
Familial periodic paralysis is a malady usually characterized by (1) recurrent flaccid muscular paralysis, (2) history of the disease in other members of the family, (3) depression of the level of potassium ions in the blood serum during an episode of paresis, (4) impairment of electrical excitability of the musculature, (5) impairment of deep reflexes, (6) retention of consciousness without al...
متن کاملPMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia
Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. In this study, we identified a novel missense mutation (c.803G>A, p.R268Q) in the plasma membrane calcium ATPase (PMCA4, or ATP2B4) gene in a Chinese family with autos...
متن کاملElectrophysiological studies in familial spastic paraplegia.
Motor and sensory conduction studies have been performed in 10 patients from three families with uncomplicated familial spastic paraplegia whose ages ranged from 4 to 41 years. In all cases the values fell within the control range. The findings may be contrasted with those in Friedreich's ataxia and some other spinocerebellar degenerations in which peripheral nerve abnormalities are present.
متن کاملStrümpell's familial spastic paraplegia: genetics and neuropathology.
Uncomplicated Strümpell's disease (Strümpell's familial spastic paraplegia) with a dominant mode of inheritance is recorded in six families. The neuropathological findings in two cases from these families are given, bringing the total of similar histologically documented reports in the literature to 11. It is concluded that, although exact classification and identification of the many different...
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1916
ISSN: 0022-3018
DOI: 10.1097/00005053-191611000-00010