PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia
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چکیده
منابع مشابه
PMCA4 (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 کاملPMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion
BACKGROUND 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. Recently, we described a novel missense mutation (c.803G>A, p.R268Q) in the plasma membrane calcium ATPase (PMCA4, or ATP2B4) gene in a Chinese family with ...
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Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six un...
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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: PLoS ONE
سال: 2014
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0104790