Work

Autosomal recessive inheritance of ADCY5 -related generalized dystonia and myoclonus

Year: 2017

Type: article

Abstract: Monoallelic ADCY5 mutations have been associated with a benign hereditary chorea-like phenotype and a mixed hyperkinetic syndrome with dystonia, chorea, and myoclonus.1–4 We report 2 siblings with generalized dystonia and myoclonus associated with biallelic pathogenic variants in ADCY5 inherited in an autosomal recessive pattern.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000000193

Authors: Matthew J. Barrett, Eli S. Williams, Chelsea Chambers, Radhika Dhamija

Institutions: Mayo Clinic, University of Virginia Health System, Mayo Clinic in Arizona, Mayo Clinic Hospital

Language: English

Topic: Neurological disorders and treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,300