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Article

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

Neurogenetics - 1 Nov 2007

Del Bo Roberto, Di Fonzo Alessio, Ghezzi Serena, Locatelli Federica, Stevanin Giovanni, Costa Antonella, Corti Stefania, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17717710
DOI: 10.1007/s10048-007-0095-z

Genes

SPG11

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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SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.PMID 17717710Read ↗

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