Document Detail


C19orf12 mutation leads to a pallido-pyramidal syndrome.
MedLine Citation:
PMID:  24361204     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Michael C Kruer; Mustafa A Salih; Catherine Mooney; Jawahir Alzahrani; Salah A Elmalik; Mohammad M Kabiraj; Arif O Khan; Reema Paudel; Henry Houlden; Hamid Azzedine; Fowzan Alkuraya
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-12-17
Journal Detail:
Title:  Gene     Volume:  -     ISSN:  1879-0038     ISO Abbreviation:  Gene     Publication Date:  2013 Dec 
Date Detail:
Created Date:  2013-12-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 Elsevier B.V. All rights reserved.
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