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Article

Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.

Autonomic neuroscience : basic & clinical - 1 Oct 2014

Shin Jung-Won, Jung Keun-Hwa, Lee Soon-Tae, Moon Jangsup, Seong Moon-Woo, Park Sung Sup, Lee Sang Kun, Chu Kon

Abstract excerpt

SPG3A, which is the second most common type of autosomal dominant hereditary spastic paraplegia (HSP), is caused by mutations in the atlastin GTPase 1 gene, ATL1. We report a case of a patient who presented as dysautonomia and had a novel splicing mutation c.35-3C>T in exon 2 of the ATL1. Orthost...

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Source

Identifiers

PMID: 24969372
DOI: 10.1016/j.autneu.2014.06.001

Genes

ATL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24969372-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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