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Article

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

BMC neurology - 9 Mar 2010

Braschinsky Mark, Tamm Riin, Beetz Christian, Sachez-Ferrero Elena, Raukas Elve, Lüüs Siiri-Merike, Gross-Paju Katrin, Boillot Catherine, Canzian Federico, Metspalu Andres, Haldre Sulev

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder that can be an autosomal-dominant, autosomal-recessive, or X-linked disease. The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene. METHODS: The aim of this study was to analyze 49 patients diagnosed with HSP from the Estonian population for sequence variants of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20214791
DOI: 10.1186/1471-2377-10-17
PMCID: PMC2841126

Genes

SPAST

Variants

Provenance

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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