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

Maja Trošt; Maren Carbon; Christine Edwards; Yilong Ma; Deborah Raymond; Marc J. Mentis; James R. Moeller; Susan B. Bressman; David Eidelberg

doi:10.1002/ana.10418

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

Maja Trošt, Maren Carbon, Christine Edwards, Yilong Ma, Deborah Raymond, Marc J. Mentis, James R. Moeller, Susan B. Bressman, David Eidelberg

Research output: Contribution to journal › Article › peer-review

101 Scopus citations

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.

Original language	English
Pages (from-to)	853-856
Number of pages	4
Journal	Annals of Neurology
Volume	52
Issue number	6
DOIs	https://doi.org/10.1002/ana.10418
State	Published - 1 Dec 2002
Externally published	Yes

Access to Document

10.1002/ana.10418

Cite this

@article{1257139656794d47aa5e399c9c1f9e3e,

title = "Primary dystonia: Is abnormal functional brain architecture linked to genotype?",

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.",

author = "Maja Tro{\v s}t and Maren Carbon and Christine Edwards and Yilong Ma and Deborah Raymond and Mentis, {Marc J.} and Moeller, {James R.} and Bressman, {Susan B.} and David Eidelberg",

year = "2002",

month = dec,

day = "1",

doi = "10.1002/ana.10418",

language = "English",

volume = "52",

pages = "853--856",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley & Sons Inc.",

number = "6",

}

TY - JOUR

T1 - Primary dystonia

T2 - Is abnormal functional brain architecture linked to genotype?

AU - Trošt, Maja

AU - Carbon, Maren

AU - Edwards, Christine

AU - Ma, Yilong

AU - Raymond, Deborah

AU - Mentis, Marc J.

AU - Moeller, James R.

AU - Bressman, Susan B.

AU - Eidelberg, David

PY - 2002/12/1

Y1 - 2002/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0036894150&partnerID=8YFLogxK

U2 - 10.1002/ana.10418

DO - 10.1002/ana.10418

M3 - Article

C2 - 12447944

AN - SCOPUS:0036894150

SN - 0364-5134

VL - 52

SP - 853

EP - 856

JO - Annals of Neurology

JF - Annals of Neurology

IS - 6

ER -

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

Abstract

Access to Document

Fingerprint

Cite this