Amyotrophic Lateral Sclerosis: Genotypes and Phenotypes

摘要: Mendelian forms of amyotrophic lateral sclerosis (ALS) account for nearly 10 % all cases. To date, 19 disease genes, usually but not exclusively inherited with an autosomal dominant pattern, have been reported to be associated ALS or atypical motor neuron diseases without frontotemporal dementia (ALS-FTD). Often, it is possible draw correlations between distinct ALS-associated mutations and specific clinical phenotypes. This information essential biologists clinicians alike, providing at the same time unparalleled insight into pathogenesis invaluable tools genetic counseling, diagnosis, development preventive strategies treatments ALS.