Abstract Details

Title Case Report: Familial Amyotrophic Lateral Sclerosis SOD1 c.122A>G (p.Glu41Gly) Mutation with Slow Disease Progression

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-029

Objective A 42-year-old middle eastern man presented with 4 years of progressive weakness and gait impairment.

Examination showed predominantly lower body weakness with a mix of upper and lower motor neuron findings (hyperreflexia and muscle atrophy more prominent in the lower than upper limbs with muscle fasciculations). Electromyography showed active and chronic denervation in the cervical, thoracic and lumbar regions. The patient was diagnosed with amyoptrophic lateral sclerosis (ALS) based on El Escorial criteria. ALS Functional Rating Scale (ALSFRS) and ALSFRS Revised scores were 29 and 36, respectively. Pulmonary function testing showed normal respiratory parameters. He was started on Riluzole and enrolled in a clinical trial.

The patient's family history was notable for consanguineous parents (cousins); his father had similar symptoms in his 40s and passed away in his 50s. The patient’s paternal aunt had a daughter who also developed similar symptoms and passed away in her 40s.

Genetic testing revealed a heterozygous mutation in SOD1 c.122A>G (p.Glu41Gly). This particular SOD1 mutation has been reported in 1 other individual with familial ALS (FALS) and was characterized by predominantly lower body involvement with sparing of the respiratory muscles after 3 years.

The SOD1 gene encodes for copper-zinc superoxide dismutase 1 and accounts for 15% of European and 30% Asian FALS cases. The SOD1 c.122A>G (p.Glu41Gly) mutation has been confirmed now in two reported FALS cases with both patients demonstrating predominantly lower body weakness and slow disease progression.

Background NA

Design/Methods NA

Results NA

Conclusions NA

Authors/Disclosures
Minh-Thuy T. Nguyen PRESENTER	No disclosure on file
Shuhan Zhu, MD	Dr. Zhu has nothing to disclose.

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