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Article

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

European journal of human genetics : EJHG - 1 Oct 2014

Khan Tahir Naeem, Klar Joakim, Tariq Muhammad, Anjum Baig Shehla, Malik Naveed Altaf, Yousaf Raja, Baig Shahid Mahmood, Dahl Niklas

Abstract excerpt

Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and 'pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations. We report on a large consanguineous family segregating six members with early onset HSP. The pedigree was compatible...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Proteins

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Share to Spastic Paraplegia, Hereditary

Source

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Identifiers

PMID: 24473461
DOI: 10.1038/ejhg.2014.5
PMCID: PMC4169543

Genes

ATL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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