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- Title
Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia.
- Authors
Akhmetgaleyeva, A.; Khidiyatova, I.; Saifullina, E.; Idrisova, R.; Magzhanov, R.; Khusnutdinova, E.
- Abstract
Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal dominant form of the disease in Europeans is HSP associated with mutations in the spastin gene ( SPG4). Analysis of the gene SPG4 was carried out in 52 unrelated families with HSP from Bashkortostan by SSCP and following sequencing. Previously undescribed frameshift mutations c.322del29 (p.Val108SerfsX18) and c.885del10 (p.Thr295ThrfsX16) were detected in two unrelated families. Clinical studies have shown that, in both families, the disease corresponds to an uncomplicated form of hereditary spastic paraplegia, a main feature of which is the lower spastic paraparesis without any other symptoms.
- Subjects
BASHKORTOSTAN (Russia); NEURODEGENERATION; SINGLE nucleotide polymorphisms; TISSUE wounds; PYRAMIDAL tract; FRAMESHIFT mutation; PARAPLEGIA; NUCLEOTIDE sequencing; DISEASES; DIAGNOSIS
- Publication
Russian Journal of Genetics, 2016, Vol 52, Issue 6, p603
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795416060028