Primary and secondary dystonic syndromes

Gavin Charlesworth,Kailash P Bhatia

doi:10.1097/wco.0b013e3283633696

Gavin Charlesworth, Kailash P Bhatia

Open Access

https://doi.org/10.1097/wco.0b013e3283633696

Copy DOI

Abstract

Purpose of reviewThe dystonias are a common but complex group of disorders that show considerable variation in cause and clinical presentation. The purpose of this review is to highlight the most important discoveries and insights from across the field over the period of the past 18 months.Recent findingsFive new genes for primary dystonia (PRRT2, CIZ1, ANO3, TUBB4A and GNAL) have made their appearance in the literature. New subtypes of neuronal brain iron accumulation have been delineated and linked to mutations in C19orf12 and WDR45, while a new treatable form of dystonia with brain manganese deposition related to mutations in SLC30A10 has been described. At the same time, the phenotypes of other forms of dystonic syndromes have been expanded or linked together. Finally, there has been increasing recognition of both the extramotor phenotype in dystonia and the part played by the cerebellum in its pathophysiology.SummaryRecently, there has been unprecedented change in the scientific landscape with respect to the cause of various dystonic syndromes that is likely to make a direct impact on clinical practice in the near future. Understanding the genetic cause of these syndromes and the often wide phenotypic variation in their presentations will improve diagnosis and treatment. With time, these discoveries may also lead to much-needed progress in elucidating the underlying pathophysiology of dystonia.

Highlights

The dystonias are a heterogenous group of hyperkinetic movement disorders, characterized by involuntary sustained muscle contractions affecting one or more sites of the body that lead to twisting and repetitive movements or abnormal postures of the affected body part
Patients with psychogenic dystonia displayed an opposite pattern of activation, with increased regional blood flow in the cerebellum and basal ganglia and decreased flow in the primary motor cortex. Together these studies suggest that distinct neurobiological mechanisms underpin organic and psychogenic dystonia, with the former related to aberrant motor cortical plasticity and metabolism and the latter related to abnormalities of frontosubcortical processing [46&]
Fuelled by the rapid improvement in genetic sequencing technologies, there has been an unprecedented advance in our understanding of the cause of several forms of primary and heredodegenerative dystonia

Summary

INTRODUCTION

The dystonias are a heterogenous group of hyperkinetic movement disorders, characterized by involuntary sustained muscle contractions affecting one or more sites of the body that lead to twisting and repetitive movements or abnormal postures of the affected body part. They represent the third most common movement disorder worldwide [1,2,3,4]. Several new dystonic syndromes have come into existence, whereas other long-recognized dystonic syndromes have been linked either to novel or occasionally even well-known genes

KEY POINTS

A NEW WILSON’S DISEASE?

Findings

CONCLUSION