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C19orf12 mutation leads to a pallido-pyramidal syndrome.

ABSTRACT: 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 multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12. Our findings add to the phenotypic spectrum associated with C19orf12 mutations.

SUBMITTER: Kruer MC

PROVIDER: S-EPMC4422067 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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C19orf12 mutation leads to a pallido-pyramidal syndrome.

Kruer Michael C MC Salih Mustafa A MA Mooney Catherine C Alzahrani Jawahir J Elmalik Salah A SA Kabiraj Mohammad M MM Khan Arif O AO Paudel Reema R Houlden Henry H Azzedine Hamid H Alkuraya Fowzan F

Gene 20131217 2

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 multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron depo ...[more]

PMID: 24361204

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