Abstract Details

Title SQSTM1 Gene Mutation Causing Slowly Progressive Motor Neuron Disease

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 410

Objective NA

Background Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is a neurodegenerative disease affecting both upper and lower motor neurons. While 90% of cases are sporadic, 5-10% are thought to be familial. Advancements in molecular genetic technologies have shown an increased genetic predisposition to ALS.

Design/Methods Case report

Results A 27-year-old female presented with slurred speech and diffuse muscle weakness. However, further questions revealed a history of right arm weakness 4 years prior to presentation with gradual progression to the rest of her extremities. Neurological exam showed profound dysarthria, bilateral facial weakness, and predominantly neck and distal muscle weakness with a normal sensory exam. Furthermore, the patient had brisk deep tendon reflexes and gag reflex, along with tongue atrophy and fasciculations. The Nerve Conduction Study (NCS) showed reduced motor action potential with preserved sensory action potential and velocities. Electromyography showed increased amplitude and duration of motor unit potentials and evidence of subacute to chronic denervation. She was started on Riluzole after the electrodiagnostic study confirmed a diagnosis of ALS. She was classified as having a slowly progressive variant of the disease [Revised ALS Functional Rating scale (ALSFRS-R) score is 22/48] 10 years after symptom onset. Genetic testing revealed heterozygous mutation in the SQSTM1 gene (c.649C >T).

Conclusions 1% of patients with familial ALS have been found to have mutations in the SQSTM1 gene, which is responsible for scaffold proteins and NFKB signaling.

Authors/Disclosures
Blake K. Windham PRESENTER	Mr. Windham has nothing to disclose.
Chandra Sekhar Mannyam, MBBS (Salem Health)	Dr. Mannyam has nothing to disclose.
Saurabh G. Shukla, MD (Lone Star Neurology)	Dr. Shukla has nothing to disclose.

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