Autosomal dominant dyskinesia associated with the ADCY5 gene

Autosomal dominant dyskinesia caused by heterozygous pathogenic variants in the ADCY5 gene, which encodes adenylate cyclase-5, is a rare neurodegenerative disease with a typical early onset and is primarily associated with hyperkinesias, mostly complex ones. Nonfamilial cases caused by de novo gene variants predominate. Caffeine in the form of coffee has become a common treatment. Three cases have been described: a familial case in a 9-year-old boy and a 54-year-old mother; a nonfamilial case in a 4-year-old girl with a frequent ADCY5 variant, p.Arg418Gln; and a nonfamilial case in an 8-year-old boy with a known variant, p.Arg726Trp. In the familial case, the mother’s disease was much less severe than that of the son and did not require treatment; coffee was effective in the son.