Familial amyotrophic lateral sclerosis
From Ganfyd
Web Resources for Familial amyotrophic lateral sclerosis
ICD 10 code: G12.2
Genetic Databases
Relevant Clinical Literature
UK Guidance
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
- ↑ Jonsson PA, Graffmo KS, Andersen PM, Brännström T, Lindberg M, Oliveberg M, et al. Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis models. Brain : a journal of neurology. 2006;129(Pt 2):451-64. (Direct link – subscription may be required.)
- ↑ Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE. Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in neuronal development and degeneration. Neurochem Int 2007.(Epub ahead of print) (Direct link – subscription may be required.)
- ↑ Gopinath S, Blair IP, Kennerson ML, Durnall JC, Nicholson GA. A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Human genetics 2007;121(5):559-64. (Direct link – subscription may be required.)

