Child Neurology: Hereditary spastic paraplegia in children
نویسندگان
چکیده
منابع مشابه
Child neurology: hereditary spastic paraplegia in children.
S.T. de Bot, MD B.P.C. van de Warrenburg, MD, PhD H.P.H. Kremer, MD, PhD M.A.A.P. Willemsen, MD, PhD Because the medical literature on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of HSP. The differential diagnosis of progressive spastic paraplegia strongly depends on the age ...
متن کاملHereditary spastic paraplegia.
Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two clinical groups, uncomplicated (pure spast...
متن کاملHereditary Spastic Paraplegia.
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,...
متن کاملSPG3A gene polymorphisms in hereditary spastic paraplegia
Objective: This study aimed to analyze the hereditary spastic paraplegia (HSP)/spastic paraplegia 3A (SpG3A) genomic structure as well as the polymorphisms in SPG3G genomic structure by comparing with the normal subjects. Methods: A total of 66 sporadic cases with HSP were collected from April 2014 to September 2016. Genomic DNA extraction was performed, and all coding exons and junction region...
متن کاملSensory neuropathy in hereditary spastic paraplegia.
A large kinship is reported with dominantly inherited spastic paraplegia starting in the first decade of life; its clinical evolution was indistinguishable from that of "pure" hereditary spastic paraplegia (HSP). However, all patients studied had electrophysiological evidence of a predominantly sensory polyneuropathy, which was confirmed on nerve biopsy in three. The histological findings indic...
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ژورنال
عنوان ژورنال: Neurology
سال: 2010
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3181fc2776