Results 131 to 140 of about 8,747 (246)

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies [PDF]

, 2014
OBJECTIVE: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic ...
Adamson, G, Beck, J, Campbell, T, Haworth, A, Hehir, J, Houlden, H, McColgan, P, Mead, S, Moss, DJH, Mudanohwo, E, Polke, JM, Poulter, M, Sweeney, MG, Tabrizi, SJ, Wild, EJ   +14 more
core  

Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1‐Related Disorders

Movement Disorders Clinical Practice, EarlyView.
Jana Domínguez‐Carral, Juan Darío Ortigoza‐Escobar   +1 more
wiley   +1 more source

Pallidal Evoked Resonant Neural Activity as a Candidate Biomarker for Deep Brain Stimulation in Dystonia

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) targeted to the globus pallidus (GP) can effectively alleviate dystonia symptoms. However, identifying optimal therapeutic stimulation parameters is challenging due to the manual programming process and the paucity of acute effects of DBS on dystonia symptoms.
Kara A. Johnson, Patricia B. Coutinho, Filipe P. Sarmento, Elizabeth Vo, Joshua K. Wong, Justin D. Hilliard, Kelly D. Foote, Coralie de Hemptinne   +7 more
wiley   +1 more source

A Novel Presentation of an Ocular Geste Antagoniste in Cervical Dystonia: A Case Report

Tremor and Other Hyperkinetic Movements, 2013
Background: A geste antagoniste or sensory trick is a well described phenomenon associated with primary cervical dystonia. Craniocervical tactile stimulation or stereotyped limb movements allow patients to transiently ameliorate dystonic activation ...
James T. Boyd, Timothy J. Fries, Keith J. Nagle, Robert W. Hamill   +3 more
doaj   +1 more source

Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients [PDF]

, 2014
Magnetic resonance imaging (MRI) research in identifying altered brain structure and function in ataxia-telangiectasia, an autosomal recessive neurodegenerative disorder, is limited.
Fiori, Simona, Lavin, Martin, Pannek, Kerstin, Rose, Stephen, Sahama, Ishani, Sinclair, Kate   +5 more
core   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Functional Connectivity to the Cerebellum and Resting‐State Networks Predict Earlier Improvement of Dystonia Following Globus Pallidus Internus‐Deep Brain Stimulation (GPi‐DBS)

Movement Disorders, EarlyView.
Early improvement of dystonia after globus pallidus internus‐deep brain stimulation (GPi‐DBS) is associated with stimulation of the globus pallidus externus‐subthalamic nucleus (GPe‐STN) fibers and the lenticular fasciculus. Functional connectivity to the cerebellar cortex and the limbic and default mode networks predict early improvement of symptoms ...
A. Enrique Martinez‐Nunez, Vyshak Chandra, Chance R. Fleeting, Aashay Patel, Kelly D. Foote, Justin D. Hilliard, Marta San Luciano Palenzuela, Coralie de Hemptinne, Michael S. Okun, Joshua K. Wong   +9 more
wiley   +1 more source

Difficult Diagnoses in Hyperkinetic Disorders – A Focused Review

Frontiers in Neurology, 2012
Hyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena.
Francisco eCardoso
doaj   +1 more source

Longitudinal follow-up with VIM thalamic deep brain stimulation for dystonic or essential tremor [PDF]

, 2020
Takashi Tsuboi, Zakia Jabarkheel, Pamela Zeilman, Matthew Barabas, Kelly D. Foote, Michael S. Okun, Aparna Wagle Shukla   +6 more
openalex   +1 more source

Holmes Tremor with Dystonia after Parietal and Premotor Ischemic Stroke in an Essential Tremor Patient: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Luca Angelini, Rick C.G. Helmich
wiley   +1 more source