| Literature DB >> 24361204 |
Michael C Kruer1, Mustafa A Salih2, Catherine Mooney3, Jawahir Alzahrani4, Salah A Elmalik5, Mohammad M Kabiraj6, Arif O Khan7, Reema Paudel8, Henry Houlden8, Hamid Azzedine9, Fowzan Alkuraya10.
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.Entities:
Keywords: BAER; CMAP; DML; ERG; MCV; MRI; Mb; Movement disorders; NBIA; Neurodegenerative disease; Neurogenetics; SNAP; VEP; base pairs; bp; brainstem auditory evoked response; compound motor action potential; distal motor latency; electroretinogram; magnetic resonance imaging; megabase; motor conduction velocity; neurodegeneration with brain iron accumulation; sensory nerve action potential; visual evoked potential
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Year: 2013 PMID： 24361204 PMCID： PMC4422067 DOI： 10.1016/j.gene.2013.11.039
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688