A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
نویسندگان
چکیده
منابع مشابه
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
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T he term hereditary spastic paraplegia (HSP) is used to describe a group of clinically and genetically heterogeneous disorders in which the defining clinical feature is progressive spasticity and weakness of the lower limbs. The phenotype is traditionally classified as ‘‘pure’’ when symptoms and signs are generally confined to those of a progressive spastic paraparesis, or ‘‘complicated’’ when...
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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...
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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: neurogenetics
سال: 2011
ISSN: 1364-6745,1364-6753
DOI: 10.1007/s10048-011-0291-8