Three Families With Amyotrophic Lateral Sclerosis and Frontotemporal Dementia With Evidence of Linkage to Chromosome 9p
Open Access
- 1 February 2007
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 64 (2) , 240-245
- https://doi.org/10.1001/archneur.64.2.240
Abstract
Amyotrophic lateral sclerosis (ALS) is the most frequently observed motoneuron disorder worldwide, with an estimated prevalence of 8 or 9 per 100 000 in the general population. In ALS, both upper and lower motoneurons selectively degenerate in the brainstem, spinal cord, and motor cortex. This incurable disease is progressive and eventually leads to death, typically from respiratory failure 3 to 5 years after the onset of symptoms. Although ALS is most frequently sporadic, approximately 15% of cases are familial. Of these, the most frequently identified cause is mutations in the copper-zinc superoxide dismutase 1 (SOD1) gene1; additionally, a mutation in the vesicle-associated membrane protein-associated protein (VAPB) gene has also been identified in familial ALS.2Keywords
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