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Ann Neurol. 2002 Dec;52(6):853-6.

Primary dystonia: is abnormal functional brain architecture linked to genotype?

Author information

1
Center for Neurosciences, North Shore-Long Island Jewish Research Institute, 350 Community Drive, Manhasset, NY 11030, USA.

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.

PMID:
12447944
DOI:
10.1002/ana.10418
[Indexed for MEDLINE]

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