Homozygous <i>GNAL</i> mutation associated with familial childhood-onset generalized dystonia

Abstract excerpt

Heterozygous loss-of-function mutations in the GNAL gene encoding the α subunit of the heterotrimeric G protein Golf (Gαolf) are known to cause isolated dystonia.1,2 Gαolf is enriched in the striatum where it couples D1 dopamine (D1R) and A2A adenosine (A2AR) receptors to the activation of adenylyl cyclase type 5 (AC5). Mutations in ADCY5 , the gene encoding AC5, are also known to lead to chorea and dystonia.3,4...

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