Document Detail

Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation.
MedLine Citation:
PMID:  22409359     Owner:  NLM     Status:  Publisher    
Our objectives were to identify the disease-causing mutation in, and report on the clinical features of, a Japanese family that had coexisting phenotypes of amyotrophic lateral sclerosis and spinal muscular atrophy. The family comprised nine patients (six men and three women). We reviewed their clinical records and performed mutation analysis of the copper/zinc superoxide dismutase (SOD1) gene in some of these patients. The patients either had a rapid (n = 7) or an extremely long (n = 2) clinical course. The mean age at onset was 39.0 ± 13.7 years (range 20-68 years). The initial symptoms were bulbar palsy (n = 2), upper (n = 4) or lower (n = 2) limb muscle weakness, or leg cramps (n = 1). The total disease duration varied widely, ranging from one year to > 69 years. We identified a SOD1 C111Y mutation among patients in this family. In conclusion, the family showed a marked intrafamilial phenotypic variation associated with the SOD1 C111Y mutation. Elucidating the biological basis of disease expression in patients with the SOD1 C111Y mutation may provide us with useful information to develop therapeutic approaches and to prevent disease progression.
Akinori Nakamura; Akiyo Hineno; Kunihiro Yoshida; Yoshiki Sekijima; Naoko Hanaoka-Tachibana; Yo-Ichi Takei; Shinji Ohara; Shu-Ichi Ikeda
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-13
Journal Detail:
Title:  Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases     Volume:  -     ISSN:  1471-180X     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101283386     Medline TA:  Amyotroph Lateral Scler     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Medicine (Neurology and Rheumatology).
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