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Article

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

Journal of human genetics - 1 Jun 2016

Willkomm Lena, Heredia Raul, Hoffmann Katrin, Wang Haicui, Voit Thomas, Hoffman Eric P, Cirak Sebahattin

Abstract excerpt

Hereditary spastic paraplegia (HSP) is an extremely heterogeneous disease caused by mutations of numerous genes leading to lower limb spasticity (pure forms) that can be accompanied by neurological symptoms (complex forms). Despite recent advances, many causal mutations in patients remain unknown. We identified a consanguineous family with the early-onset HSP. Whole-exome sequencing revealed homozygosity for a...

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Identifiers

PMID: 26888483
DOI: 10.1038/jhg.2016.6

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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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