Current Neurology and Neuroscience Reports

, 13:401

Understanding the Anatomy of Dystonia: Determinants of Penetrance and Phenotype

  • Renata P. Lerner
  • Martin Niethammer
  • David Eidelberg
Neuroimaging (DJ Brooks, Section Editor)

DOI: 10.1007/s11910-013-0401-0

Cite this article as:
Lerner, R.P., Niethammer, M. & Eidelberg, D. Curr Neurol Neurosci Rep (2013) 13: 401. doi:10.1007/s11910-013-0401-0
Part of the following topical collections:
  1. Topical Collection on Neuroimaging

Abstract

The dystonias comprise a group of syndromes characterized by prolonged involuntary muscle contractions resulting in repetitive movements and abnormal postures. Primary dystonia has been associated with over 14 different genotypes, most of which follow an autosomal dominant inheritance pattern with reduced penetrance. Independent of etiology, the disease is characterized by extensive variability in disease phenotype and clinical severity. Recent neuroimaging studies investigating this phenomenon in manifesting and non-manifesting genetic carriers of dystonia have discovered microstructural integrity differences in the cerebello-thalamo-cortical tract in both groups related to disease penetrance. Further study suggests these differences to be specific to subrolandic white matter regions somatotopically related to clinical phenotype. Clinical severity was correlated to the degree of microstructural change. These findings suggest a mechanism for the penetrance and clinical variability observed in dystonia and may represent a novel therapeutic target for patients with refractory limb symptoms.

Keywords

DystoniaCerebellumBasal gangliaThalamusDYT1 dystoniaDYT6 dystoniaPhenotypePenetrance

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Renata P. Lerner
    • 1
  • Martin Niethammer
    • 1
  • David Eidelberg
    • 1
  1. 1.Center for NeurosciencesThe Feinstein Institute for Medical ResearchManhassetUSA