Familial amyotrophic lateral sclerosis: first report from India

Area of Science:

• Neurology
• Genetics
• Neurodegenerative Diseases

Background:

• Familial amyotrophic lateral sclerosis (FALS) is a rare, inherited form of amyotrophic lateral sclerosis (ALS).
• Understanding FALS genetics is crucial for developing targeted therapies.
• This report focuses on two distinct FALS cases within separate families.

Observation:

• Case 1: A 40-year-old female diagnosed with definite ALS, exhibiting limb and bulbar symptoms, with a maternal history of ALS onset at age 42.
• Case 2: A 43-year-old male presenting with rapid limb and bulbar symptoms, confirmed ALS via electrophysiology, and a paternal history of ALS onset at age 43.
• Both families demonstrate a clear hereditary pattern of ALS.

Findings:

• Electrophysiological evaluations confirmed ALS in both patients, indicating diffuse anterior horn cell involvement.
• The disease progression and duration varied between the affected family members.
• The observed early onset in both families suggests a strong genetic predisposition.

Implications:

• These cases underscore the importance of genetic counseling and testing for families with a history of ALS.
• Further research into the specific genetic mutations responsible for FALS in these families may reveal novel therapeutic targets.
• Early identification of FALS can potentially lead to earlier interventions and improved patient management strategies.