Primary dystonia: Is abnormal functional brain architecture linked to genotype?
- 22 November 2002
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 52 (6) , 853-856
- https://doi.org/10.1002/ana.10418
Abstract
The DYT1 dystonia mutation is associated with an abnormal metabolic brain network characterized by hypermetabolism of the basal ganglia, supplementary motor area, and the cerebellum. In this study, we quantified the activity of this network in carriers of other dystonia mutations to determine whether this functional abnormality is linked to genotype. The findings suggest that the DYT1 metabolic topography is not genotype specific and may be present in carriers of other dystonia mutations.Keywords
This publication has 10 references indexed in Scilit:
- The genetics of primary dystonias and related disordersBrain, 2002
- TorsinANeuron, 2001
- The metabolic topography of essential blepharospasmNeurology, 2000
- Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidusThe Lancet, 2000
- Functional brain networks in DYT1 dystoniaAnnals of Neurology, 1998
- Penetrating observations of dystoniaAnnals of Neurology, 1998
- TolcaponeNeurology, 1998
- Idiopathic torsion dystonia linked to chromosome 8 in two mennonite familiesAnnals of Neurology, 1997
- Functional and pathophysiological models of the basal gangliaCurrent Opinion in Neurobiology, 1996
- The metabolic topography of idiopathic torsion dystoniaBrain, 1995