Hereditary Ataxia and Spastic Paraplegia in Portugal
نویسندگان
چکیده
منابع مشابه
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
IMPORTANCE Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. OBJECTIVE To present the prevalence and distribution of HCA and HSP in Portugal. DESIGN AND SETTING Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, in Portugal. PARTICIPANTS Multiple sources of information were used (revie...
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Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spastic paraplegia probands, in whom extensive previous investigations had failed to identify the gene...
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...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.1707