Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy

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 norma...

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Bibliographic Details
Published in:Muscle & nerve 2006-05, Vol.33 (5), p.701-706
Main Authors: Stewart, H.G., Mackenzie, I.R., Eisen, A., Brännström, T., Marklund, S.L., Andersen, P.M.
Format: Article
Language:English
Subjects:
Aged
amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - complications
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
Amyotrophic Lateral Sclerosis/complications/genetics/pathology
Biological and medical sciences
Blotting, Western - methods
Creatine - blood
Cysteine - genetics
Diseases of striated muscles. Neuromuscular diseases
DNA Mutational Analysis - methods
Family Health
Female
Glycine - genetics
Humans
Immunohistochemistry - methods
lower motor neuron
Medical sciences
mimic diseases
Muscular Diseases - etiology
Muscular Diseases - genetics
Muscular Diseases - pathology
Muscular Diseases/etiology/genetics/pathology
Mutation
myopathy
Myosins - metabolism
NAD - metabolism
Neurology
Phenotype
SOD1
Superoxide Dismutase - genetics
Superoxide Dismutase - metabolism
Superoxide Dismutase-1
Superoxide Dismutase/genetics/metabolism
Ubiquitin - metabolism
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Description
Summary: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
ISSN:0148-639X
1097-4598
1097-4598
DOI:10.1002/mus.20495