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Article

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.

European journal of neurology - 1 Jul 2012

Leonardis L, Auer-Grumbach M, Papić L, Zidar J

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I). We describe the detailed clinical and electrophysiologic findings...

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Source

Identifiers

PMID: 22340599
DOI: 10.1111/j.1468-1331.2012.03665.x

Genes

ATL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22340599-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.PMID 22340599Read ↗

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.Semantic proximity Read ↗

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.Semantic proximity Read ↗

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De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.Semantic proximity Read ↗

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.Semantic proximity Read ↗

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