Juvenile-onset dystonia

Definition:

Juvenile-onset dystonia is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia.

References:

[1]. Marla Gearing, et al. Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. Ann Neurol. 2002 Oct;52(4):465-76. [Content Brief]

[2]. Vincent Procaccio, et al. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006 Jun;78(6):947-60. [Content Brief]

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