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Hereditary Amyotrophic Lateral Sclerosis. A report of two families
Abstract:
An aggregation of 14 cases of amyotrophic lateral sclerosis (ALS) was encountered in two families in Minnesota. Although the classical clinical features of ALS predominated, some members of one family showed, in addition, extrapyramidal signs, peripheral sensory impairment in the upper and lower limbs and mild mental fallout. Autosomal dominant inheritance with incomplete penetrance was the most likely mode of transmission. Pathological changes were the same as those seen in sporadic ALS although one patient also showed degeneration of the substantia nigra. These two families were compared to others in the literature and an effort was made to refine the classification of familial ALS.
Insights
Two families in Minnesota exhibited amyotrophic lateral sclerosis (ALS), a rare neurological disease. Autosomal dominant inheritance with incomplete penetrance suggests a genetic link, influencing familial ALS classification.
Area of Science:
- Neurology
- Genetics
Background:
- Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord.
- Familial ALS (fALS) accounts for a small percentage of all ALS cases and is often linked to genetic mutations.
Observation:
- A cluster of 14 amyotrophic lateral sclerosis (ALS) cases was identified within two families in Minnesota.
- While most presented with classical ALS symptoms, some individuals also displayed extrapyramidal signs, peripheral sensory deficits, and mild cognitive impairment.
Findings:
- The inheritance pattern most strongly suggested autosomal dominant transmission with incomplete penetrance.
- Pathological examination revealed changes consistent with sporadic ALS, with one patient additionally showing substantia nigra degeneration.
Implications:
- This case aggregation aids in refining the classification of familial ALS.
- Understanding genetic factors and phenotypic variations is crucial for diagnosing and potentially treating ALS subtypes.