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Article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

JAMA neurology - 1 May 2015

Rinaldi Carlo, Schmidt Thomas, Situ Alan J, Johnson Janel O, Lee Philip R, Chen Ke-Lian, Bott Laura C, Fadó Rut, Harmison George H, Parodi Sara, Grunseich Christopher, Renvoisé Benoît, Biesecker Leslie G, De Michele Giuseppe, Santorelli Filippo M, Filla Alessandro, Stevanin Giovanni, Dürr Alexandra, Brice Alexis, Casals Núria, Traynor Bryan J, Blackstone Craig, Ulmer Tobias S, Fischbeck Kenneth H

Abstract excerpt

IMPORTANCE: The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients. OBJECTIVE: To identify the gene...

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Source

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Identifiers

PMID: 25751282
DOI: 10.1001/jamaneurol.2014.4769
PMCID: PMC5612424

Genes

ATL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25751282-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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