Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

A plethora of heterogeneous movement disorders is grouped under the umbrella term
dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders …

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …

This systematic MDSGene review covers individuals with confirmed genetic forms of primary
familial brain calcification (PFBC) available in the literature. Data on 516 (47% men) …

Abstract Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form
phospholipid scramblases and ion channels. A large number of ANO3 variants were …

Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …

Background Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in
dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa …

Background Deep brain stimulation (DBS) is an established treatment for dystonia and
tremor. However, there is no consensus about the best surgical targeting strategy in patients …