Vestibulo-ocular reflex impairment in SPG7 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 کاملCognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia
Objectives. To describe cognitive assessment including social cognition in SPG4 patients. Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attent...
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 کاملA clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations have been described so far in association with both pure and complicated HSP phenotypes. Muscle biopsies from the most severely affected patients have shown histological evidence of an oxidative pho...
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: Clinical Neurophysiology
سال: 2021
ISSN: 1388-2457
DOI: 10.1016/j.clinph.2020.10.012