Related Experiment Videos
Hexosaminidase A activity and amyotrophic lateral sclerosis
M Gudesblatt1, M D Ludman, J A Cohen
1Department of Neurology, Mount Sinai Medical Center, New York, NY.
Muscle & Nerve
|March 1, 1988
Summary
Hexosaminidase A (Hex A) deficiency, linked to GM2 ganglioside metabolism issues, is not a common cause of Amyotrophic Lateral Sclerosis (ALS). This study found no Hex A deficiency in typical or atypical ALS patients, suggesting it
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Hexosaminidase A (Hex A) deficiency is associated with abnormal GM2 ganglioside metabolism, potentially linking to Amyotrophic Lateral Sclerosis (ALS) phenotypes.
- Previous observations suggested clinical features like early onset, family history, or long disease duration in ALS patients with Hex A deficiency.
Purpose of the Study:
- To prospectively investigate the incidence of Hex A deficiency within an ALS patient population.
- To differentiate between typical and atypical ALS cases based on specific clinical criteria.
Main Methods:
- Review of medical records from The Mount Sinai Medical Center ALS Clinic.
- Selection of 52 "atypical" ALS patients (onset <35 years, positive family history, or duration >90 months).
- Comparison with 50 "typical" ALS patients (control group) without these criteria.
- Measurement of Hex A activity in peripheral blood leukocytes for all patients.
Main Results:
- All typical ALS patients exhibited normal Hex A activity (mean 67.3%).
- No instances of Hex A deficiency were identified in any of the atypical ALS patients.
Conclusions:
- Hexosaminidase A deficiency is an uncommon cause of both typical and atypical Amyotrophic Lateral Sclerosis.
- Despite its rarity in ALS, Hex A deficiency remains significant for individual families from a medical and genetic standpoint.