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Article

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

BMC neurology - 3 Aug 2020

Rudenskaya G E, Kadnikova V A, Ryzhkova O P, Bessonova L A, Dadali E L, Guseva D S, Markova T V, Khmelkova D N, Polyakov A V

Abstract excerpt

BACKGROUND: Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosomal dominant (AD) form of familial or sporadic spastic paraplegia (SPG),, with a wide range of phenotypes: pure and...

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Identifiers

PMID: 32746806
DOI: 10.1186/s12883-020-01872-4
PMCID: PMC7398351

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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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