Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

doi:10.1016/j.ajhg.2008.10.010

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Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

American journal of human genetics - 1 Nov 2008

Edvardson Simon, Hama Hiroko, Shaag Avraham, Gomori John Moshe, Berger Itai, Soffer Dov, Korman Stanley H, Taustein Ilana, Saada Ann, Elpeleg Orly

Abstract excerpt

Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. FA2H encodes the enzyme fatty acid 2-hydroxylase that catalyzes the...

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Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

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