Genomes and Genes
Affiliation: Massachusetts General Hospital
- Consideration of genetic contributions to the risk for spasmodic dysphoniaNutan Sharma
Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
Otolaryngol Head Neck Surg 145:369-70. 2011..Thus, research in the growing field of dystonia genetics may help to inform our understanding of the pathogenesis of spasmodic dysphonia...
- Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutationNutan Sharma
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
J Neurosci 25:5351-5. 2005..Together, these data suggest that these transgenic mice provide a useful model of the DeltaGAG carrier state that can be used to probe genetic and environmental factors that can trigger the dystonic state...
- Genetic evidence for an association of the TOR1A locus with segmental/focal dystoniaNutan Sharma
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
Mov Disord 25:2183-7. 2010..In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort...
- Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivoJeff Hewett
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02129, USA
J Neurochem 113:228-35. 2010..These data implies that altered DAT function may contribute to impaired DA neurotransmission and clinical symptoms in human DYT1 dystonia...
- Dopamine release is impaired in a mouse model of DYT1 dystoniaAygul Balcioglu
MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
J Neurochem 102:783-8. 2007..The defect in DA release as observed may contribute to the abnormalities in motor learning as previously documented in this transgenic mouse model, and may contribute to the clinical symptoms of the human disorder...
- Molecular pathways in dystoniaD Cristopher Bragg
Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA
Neurobiol Dis 42:136-47. 2011..This review focuses on these molecular pathways, highlighting potential common themes among these dystonias which may serve as areas for future research. This article is part of a Special Issue entitled "Advances in dystonia"...
- Evidence for altered basal ganglia-brainstem connections in cervical dystoniaAnne J Blood
Mood and Motor Control Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America
PLoS ONE 7:e31654. 2012..While studies in animal models support a role for this circuitry in the pathophysiology of the movement disorder dystonia, thus far, there is only indirect evidence for this in humans with dystonia...
- Deep brain stimulation for medically refractory life-threatening status dystonicus in childrenBrian P Walcott
Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA
J Neurosurg Pediatr 9:99-102. 2012..Bilateral globus pallidus internus stimulation appears to be effective in the urgent treatment of medically refractory and life-threatening movement disorders...
- Extrapyramidal epilepsyIoannis Karakis
Massachussets General Hospital, Harvard Medical School, Boston, MA, USA
Epileptic Disord 13:181-4. 2011..Familiarity and inclusion of the disease in the list of conditions that mimic epilepsy, as well as prolonged video-EEG recordings, may prevent diagnostic delays and unnecessary or belated treatments. [Published with video sequences]...
- Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domainCem Sengel
Neuroscience Center, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
J Neurochem 118:1087-100. 2011..These observations offer additional insight into the role of the coiled-coil domain in THAP1, which may facilitate future analyses of DYT6 mutations in this region...
- Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegenerationDonald C Shields
Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Pediatr Neurol 37:442-5. 2007..The prominent, noisy bursting patterns observed in the globus pallidus internus suggests that high-frequency stimulation may improve signs of dystonia by normalizing thalamic discharge patterns...
- Rodent models for dystonia research: characteristics, evaluation, and utilityH A Jinnah
Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA
Mov Disord 20:283-92. 2005..This review summarizes the main outcomes of this conference. 2005 Movement Disorder Society...
- White matter abnormalities in dystonia normalize after botulinum toxin treatmentAnne J Blood
Department of Neurology, Massachusetts General Hospital, Charlestown 02129, and Harvard Medical School, Boston, Massachusetts, USA
Neuroreport 17:1251-5. 2006..This raises the possibility that we have observed activity-dependent white matter plasticity in the adult human brain...
- Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodiesMichael G Schlossmacher
Department of Neurology, Center for Neurologic Diseases, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Am J Pathol 160:1655-67. 2002..These results suggest that functional parkin proteins may be required during LB formation...
- TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregationPamela J McLean
Alzheimer s Disease Research Unit, Center for Aging, Genetics and Neurodegeneration, Massachusetts General Hospital East, Charlestown, Massachusetts 02129, USA
J Neurochem 83:846-54. 2002..Moreover, these data support a role for chaperone proteins, including torsinA and heat shock proteins, in cellular responses to neurodegenerative inclusions...
- Role of DYT1 Mutation in DystoniaNutan Sharma; Fiscal Year: 2007..The injected mice will be examined for changes in phenotype as well as for changes in dopaminergic transmission via HPLC. ..