Document Detail

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.
MedLine Citation:
PMID:  23035801     Owner:  NLM     Status:  Publisher    
Our objective was to characterize the motor neuron disease features within a large c9FTD/ALS kindred. We analyzed clinical, electrophysiologic and neuropathologic data in a c9FTD/ALS kindred of Scandinavian ancestry. Results showed that of six family members affected, three had only ALS, two had FTD and one had FTD and ALS. Each patient with motor neuron disease had a different clinical presentation: one patient had only bulbar symptoms, one had bulbar and limb involvement, one had limb symptoms, and one had primarily upper motor neuron disease. Later in the course of disease, all ALS patients developed bulbar involvement and died from respiratory causes. Survival was uniformly short (two to five years). Electrophysiologic studies recorded progressive lower motor neuron dysfunction except in the patient with predominantly upper motor neuron features. In conclusion, this kindred demonstrates that the presentation of ALS within c9FTD/ALS families may vary considerably and electrophysiologic findings reflect this heterogeneity.
Elizabeth A Coon; Jasper R Daube; Mariely Dejesus-Hernandez; Anahita Adeli; Rodolfo Savica; Joseph E Parisi; Dennis W Dickson; Keith A Josephs; Matthew C Baker; Kris A Johnson; Robert J Ivnik; Ronald C Petersen; David S Knopman; Kevin B Boylan; Rosa Rademakers; Bradley F Boeve
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-4
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:  Amyotroph Lateral Scler     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-5     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 Neurology , Mayo Clinic, Rochester , Minnesota.
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