Document Detail

C19orf12 mutation leads to a pallido-pyramidal syndrome.
MedLine Citation:
PMID:  24361204     Owner:  NLM     Status:  Publisher    
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.
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
Related Documents :
24691974 - Age delays the recovery of distal motor latency after carpal tunnel syndrome surgery.
23033504 - Reviewing the genetic causes of spastic-ataxias.
1149584 - Diverticular fecalith in scleroderma simulating colonic neoplasm: report of a case.
23590784 - Bifid median nerve causing carpal tunnel syndrome: mri and surgical correlation.
16299044 - A case of post-reperfusion syndrome following surgery for liver trauma.
9224474 - Granulomatous blepharitis as a sign of melkersson-rosenthal syndrome.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  De Novo Pyrimidine Biosynthesis in the Oomycete Plant Pathogen Phytophthora Infestans.
Next Document:  Analysis of quantitative trait loci affecting chlorophyll content of rice leaves in a double haploid...