Pure or Complex Hereditary Spastic Paraplegia Type 4?
نویسندگان
چکیده
منابع مشابه
Possible anticipation in hereditary spastic paraplegia type 4 (SPG4).
OBJECTIVE We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encoding the spastin protein. We hypothesized that this deletion mutation may be dynamic and variability in the size of the deletion could account for th...
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The genetic and clinical features of 46 patients in nine families with "pure" hereditary spastic paraplegia are described. Inheritance was autosomal dominant in seven families and autosomal recessive in two. In dominant kinships, five families corresponded to type I with onset below 35 years, and two to type II with onset over 35 years. In early onset dominant families, in spite of apparent com...
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111 families, and Paskind and Stone (1933) also summarized the literature with accounts of another 36 reports from 40 families. Since then about 50 further reports have appeared, covering some 60 families, bringing the total so far to 176 reports of 215 families. Of these the majority have originated in Germany or elsewhere in Europe, but with a substantial number from the Americas. In Britain,...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2019
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2019.15.2.265