046 A critical review of biomarkers for hereditary spastic paraplegia
نویسندگان
چکیده
منابع مشابه
Hereditary 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 کامل[Intrathecal baclofen therapy for hereditary spastic paraplegia].
Intrathecal baclofen therapy (ITB) is an established treatment for intractable spasticity. More than 1,100 patients have undergone ITB in Japan, and there are about 50 hereditary spastic paraplegia (HSP) The features of ITB in HSP are 1. small doses of baclofen may often be enough, 2. small changes of doses later the symptoms remarkably, 3. doses can be decreased after long term ITB.
متن کاملHereditary spastic paraplegia from 1880 to 2017: an historical review.
The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.
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: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2019
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2019-anzan.41