Familial amyotrophic lateral sclerosis

From Ganfyd

There are a large number of genetic condtions that explain the 10% with familial amyotrophic lateral sclerosis. These include

• ALS1 - autosomal dominant with mutated copper/zinc SOD1 at 21q22.1. Recent study linked cases to over 100 possible mutations of SOD 1.^[1]
• ALS2 - autosomal recessive condition often with prominent upper motor neuron features. Due to mutation of alsin gene at 2q33 which activates Rab5 small GTPase with a role in endosome/membrane trafficking and fusions in the cell, and promotes neurite outgrowth in neurons. It may be neuroprotective.^[2].
• ALS3 - autosomal dominant at 18q21
• ALS4 - autosomal dominant mutation of SETX gene at 9q34 causing young onset slow progression condition. It codes for a helicase senataxin.
• ALS5 - autosomal recessive at 15q15.1-21.1
• ALS6 - autosomal dominant at 16q12.1-12.2
• ALS7 - autosomal dominant at 20p13
• ALS8 - autosomal dominant mutation of VAPB gene at 20q13.3
• Dynactin type lower motor neuron disease an autosomal dominant very slowly progressive condition with the mutation in the dynactin 1 gene (DCTN1) at 2q13
• Amyotrophic lateral sclerosis with frontotemporal dementia (ALSFTD, FTD-MND) due to mutation at 9q21-q22
• Amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam due to mutation at 15q21.
• Juvenile amyotrophic lateral sclerosis and distal hereditary motor neuropathy due to mutation at 7q34-q36.^[3]

References