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Brain Advance Access originally published online on January 22, 2007
Brain 2007 130(5):1183-1193; doi:10.1093/brain/awl355
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© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Review Article

Do primary adult-onset focal dystonias share aetiological factors?

Giovanni Defazio1, Alfredo Berardelli2 and Mark Hallett3

1Department of Neurologic and Psychiatric Sciences, University of Bari, Bari, Italy, 2Human Motor Control Section, NINDS, NIH, Bethesda, MD, USA and 3Department of Neurological Sciences (Rome) and NEUROMED Institute (Pozzilli IS), University of Rome "La Sapienza", Rome, Italy

Correspondence to: Prof. A. Berardelli, Department of Neurological Sciences, University of Rome "La Sapienza", Viale dell’Università, 30, 00185 Rome, Italy E-mail: alfredo.berardelli{at}uniroma1.it

To consider whether the various clinical types of primary late-onset dystonia have a common aetiological background, or are each distinct and separate entities, sharing only the clinical appearance of dystonia, we reviewed epidemiological, clinical, neurophysiological and imaging data reported in patients with different forms of primary late-onset dystonia. The epidemiological and clinical features that distinguished the various clinical types and suggest aetiological differences were prevalence, age of onset, sex preference, sensory tricks, and tendency to spread. Likewise, aetiological differences were also supported by the observation that environmental risk factors possibly triggering focal dystonias in predisposed subjects can differ from one form to the other. The fact that different forms of focal dystonia may coexist in the same individual as the result of spread nevertheless suggests that the various focal dystonias are related. Detailed examination of available familial and genetic data indicates that the different forms of primary late-onset dystonia share aetiological factors, most probably genetic. Neurophysiological and imaging studies have demonstrated a number of abnormalities in focal dystonias and some of these are shared by the different clinical types. The shared abnormality of sensorimotor integration (and cortical excitability) beyond the symptomatic body part identified in various clinical types and in unaffected relatives might reflect the genetic abnormality indicating the substrate on which the dystonia develops.

Key Words: focal dystonia; complex disease; genetics; brain imaging; clinical neurophysiology

Abbreviations: BSP, blepharospasm; CD, cervical dystonia; FHD, focal hand dystonia; TMS, transcranial magnetic stimulation; EMG, electromyography; SMA, supplementary motor area; CSP, Cortical silent period; MEP, motor evoked potential; GABA, gamma amino butyric acid; fMRI, functional magnetic resonance imaging; PET, positron emission tomography; SPECT, single photon emission computed tomography

Received July 12, 2006. Revised October 24, 2006. Accepted November 20, 2006.


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