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January 22, 2013; 80 (4) Article

Metabolic changes in DYT11 myoclonus-dystonia

Maren Carbon, Deborah Raymond, Laurie Ozelius, Rachel Saunders-Pullman, Steven Frucht, Vijay Dhawan, Susan Bressman, David Eidelberg
First published January 2, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31827f0798
Maren Carbon
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Deborah Raymond
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Laurie Ozelius
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Rachel Saunders-Pullman
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Steven Frucht
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Vijay Dhawan
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Susan Bressman
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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David Eidelberg
From the Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
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Full PDF
Citation
Metabolic changes in DYT11 myoclonus-dystonia
Maren Carbon, Deborah Raymond, Laurie Ozelius, Rachel Saunders-Pullman, Steven Frucht, Vijay Dhawan, Susan Bressman, David Eidelberg
Neurology Jan 2013, 80 (4) 385-391; DOI: 10.1212/WNL.0b013e31827f0798

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Abstract

Objective: To identify brain regions with metabolic changes in DYT11 myoclonus-dystonia (DYT11-MD) relative to control subjects and to compare metabolic abnormalities in DYT11-MD with those found in other forms of hereditary dystonia and in posthypoxic myoclonus.

Methods: [18F]-fluorodeoxyglucose PET was performed in 6 subjects with DYT11-MD (age 30.5 ± 10.1 years) and in 6 nonmanifesting DYT11 mutation carriers (NM-DYT11; age 59.1 ± 8.9 years) representing the parental generation of the affected individuals. These data were compared to scan data from age-matched healthy control subjects using voxel-based whole brain searches and group differences were considered significant at p < 0.05 (corrected, statistical parametric mapping). As a secondary analysis, overlapping abnormalities were identified by comparisons to hereditary dystonias (DYT1, DYT6, dopa-responsive dystonia) and to posthypoxic myoclonus.

Results: We found significant DYT11 genotype-specific metabolic increases in the inferior pons and in the posterior thalamus as well as reductions in the ventromedial prefrontal cortex. Significant phenotype-related increases were present in the parasagittal cerebellum. This latter abnormality was shared with posthypoxic myoclonus, but not with other forms of dystonia. By contrast, all dystonia cohorts exhibited significant metabolic increases in the superior parietal lobule.

Conclusions: The findings are consistent with a subcortical myoclonus generator in DYT11-MD, likely involving the cerebellum. By contrast, subtle increases in the superior parietal cortex relate to the additional presence of dystonic symptoms. Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model.

Glossary

BA=
Brodmann area;
DG=
dystrophin-glycoprotein;
DRD=
dopa-responsive dystonia;
DYT11-MD=
DYT11 myoclonus-dystonia;
FDG=
18F-fluorodeoxyglucose;
FWE=
family-wise error;
MD=
myoclonus-dystonia;
MNI=
Montreal Neurological Institute;
NM-DYT11=
nonmanifesting DYT11 mutation carriers;
SSRI=
selective serotonin reuptake inhibitor

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at www.neurology.org

  • Received April 18, 2012.
  • Accepted September 6, 2012.
  • © 2013 American Academy of Neurology
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