Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle
contractures, that begins in childhood. Symptoms are believed to result from altered neuronal …

To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic,
although there is evidence of familial aggregation, and several monogenic forms have been …

Matrix metalloproteinases (MMPs) facilitate cellular invasion by degrading the extracellular
matrix, and their regulation is partially dependent on transcription. Binding sites for members …

Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant
movement disorder with variable expressivity and reduced penetrance characterized by abrupt …

We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families
with mixed-onset primary torsion dystonia (also known as DYT6 dystonia). Another mutation …

Introduction von Recklinghausen neurofibromatosis (VRNF) is one of the most frequent and
clinically important Mendelian disorders in man, with an incidence of 1 in 3000 (Crowe et al., …

Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and
postures 1 , 2 . Its molecular pathophysiology is poorly understood, in part owing to limited …

Early‐onset Parkinson's disease (PD) has been associated with different mutations in the
Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a …

Rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12) is characterized by the
abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. …

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …