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Article

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Gene - 10 Mar 2014

Kruer Michael C, Salih Mustafa A, Mooney Catherine, Alzahrani Jawahir, Elmalik Salah A, Kabiraj Mohammad M, Khan Arif O, Paudel Reema, Houlden Henry, Azzedine Hamid, Alkuraya Fowzan

Abstract excerpt

Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping and direct sequencing in a...

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Source

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Identifiers

PMID: 24361204
DOI: 10.1016/j.gene.2013.11.039
PMCID: PMC4422067

Genes

FBXO7
PRKN
SPG11

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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