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Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy
Author(s) -
Stewart H.G.,
Mackenzie I.R.,
Eisen A.,
Brännström T.,
Marklund S.L.,
Andersen P.M.
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20495
Subject(s) - amyotrophic lateral sclerosis , fasciculation , muscle biopsy , myopathy , weakness , medicine , denervation , pathology , proximal muscle weakness , atrophy , muscle weakness , sod1 , congenital myopathy , progressive muscular atrophy , neurological examination , muscle atrophy , nebulin , anatomy , biopsy , surgery , disease , myocyte , titin , sarcomere
A 71‐year‐old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) level, and normal electromyographic (EMG) findings. A myopathy was the presumed diagnosis. Over the next year, weakness became severe and tendon reflexes became unelicitable; no upper motor signs were present. EMG then showed acute and chronic denervation and a muscle biopsy showed target fibers and grouped atrophy. DNA analysis revealed a G72C CuZn‐superoxide dismutase ( SOD1 ) mutation. Fasciculations were absent throughout the disease. The patient died 53 months after symptom onset and autopsy revealed loss of lower motor neurons (LMN) and SOD1‐positive inclusions. This case expands the phenotypic spectrum of ALS associated with SOD1 mutations to include presenting features that mimic a myopathy. Muscle Nerve, 2006