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Article

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.

Neurogenetics - 9 Feb 2026

Gillesse Emma H, Wan Miranda, Ashtiani Setareh, Suchowersky Oksana, Parboosingh Jillian S, Bernier Francois P, Lamont Ryan E, Innes A Micheil, Au P Y Billie

Abstract excerpt

SPG7-related hereditary spastic paraplegia (SPG7-HSP) is one of the most common forms of autosomal recessive HSP. There is a growing number of reports of affected individuals found to be heterozygous carriers for the recurrent pathogenic coding variants in SPG7, most notably p.Ala510Val, and this has further led to the suggestion of SPG7-HSP having both recessive and dominant forms. Here, we report a proband with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41656397
DOI: 10.1007/s10048-026-00882-7
PMCID: PMC12883507

Genes

SPG7

Variants

Provenance

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