Document Detail


Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
MedLine Citation:
PMID:  17850955     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: The effect of the number of copies in the SMN1 and SMN2 genes - the most extensively studied susceptibility and modifying genetic factors in adult onset motor neuron diseases - as a genetic risk factor for Hirayama's disease (HirD) has never been studied. The purpose of this study was to investigate the influence of the number of copies of the SMN1/SMN2 genes on the resulting phenotype in 13 HirD Spanish patients. PATIENTS AND METHODS: We performed a qualitative and quantitative SMN1/SMN2 gene analysis in 13 unrelated HirD patients. The phenotype-genotype correlation was investigated, paying particular attention to the effect of the SMN1/SMN2 copy number on the disease's phenotype. RESULTS: No patient had a homozygous deletion of the SMN1 or SMN2. No differences were found when comparing the SMN1 and SMN2 copy number distributions of the healthy population and HirD patients, and they do not therefore appear to be a susceptibility factor. There was also no correlation found between the number of copies of the SMN1 and SMN2 and the severity of the resulting phenotype. CONCLUSION: Our results suggest that SMN1 and SMN2 are not predisposing factors for HirD and therefore support a lack of association between these genes and the resulting phenotype.
Authors:
Josep Gamez; Eva Also; Laura Alias; Marc Corbera-Bellalta; Maria J Barceló; Maria Centeno; Nuria Raguer; Margarita Gratacós; Montserrat Baiget; Eduardo F Tizzano
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-09-11
Journal Detail:
Title:  Clinical neurology and neurosurgery     Volume:  109     ISSN:  0303-8467     ISO Abbreviation:  Clin Neurol Neurosurg     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-10-29     Completed Date:  2008-01-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7502039     Medline TA:  Clin Neurol Neurosurg     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  844-8     Citation Subset:  IM    
Affiliation:
Department of Neurology, Hospital Gral. Vall d'Hebron, UAB, Passeig Vall d'Hebron 119-135, 08035 Barcelona, Spain. 12784jgc@comb.es
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MeSH Terms
Descriptor/Qualifier:
Adult
Atrophy
Cell Survival / genetics
Cyclic AMP Response Element-Binding Protein / genetics*
Electromyography
Female
Forearm / innervation*
Genetic Predisposition to Disease / genetics
Genetics, Population
Hand / innervation*
Haplotypes*
Humans
Magnetic Resonance Imaging
Male
Motor Neuron Disease / diagnosis,  genetics*,  physiopathology
Motor Neurons / physiology
Muscle Weakness / diagnosis,  genetics*,  physiopathology
Muscular Atrophy, Spinal / diagnosis,  genetics*,  physiopathology
Nerve Tissue Proteins / genetics*
Neurologic Examination
Phenotype
Quantitative Trait, Heritable
RNA-Binding Proteins / genetics*
SMN Complex Proteins
Spain
Spinal Cord / pathology
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein
Syndrome
Chemical
Reg. No./Substance:
0/Cyclic AMP Response Element-Binding Protein; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 0/SMN Complex Proteins; 0/SMN1 protein, human; 0/SMN2 protein, human; 0/Survival of Motor Neuron 1 Protein; 0/Survival of Motor Neuron 2 Protein

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


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