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[Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia].

Genetika - 1 Jun 2016

Akhmetgaleyeva A F, Khidiyatova I M, Saifullina E V, Idrisova R F, Magzhanov R V, Khusnutdinova E K

Abstract excerpt

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...

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PMID: 29368828

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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