Results 91 to 100 of about 50,686 (311)
Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique
ABSTRACT Background Huntington's Disease‐like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.
Ignacio Antolin‐Sanfeliz +8 more
wiley +1 more source
ABSTRACT Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Falls represent the leading cause of nursing home placement in HD.
Japleen Kaur +7 more
wiley +1 more source
Abstract Background Clinical outcome assessments (COAs) are essential for evaluating symptom severity, treatment response, and disease progression in Parkinson's disease (PD). As clinical knowledge evolves, it is necessary to revisit the recommendation status on the COAs to ensure their continued relevance and validity. Objectives To provide an updated
Evita Papathoma +14 more
wiley +1 more source
Reply to “Neurophysiological Testing to Diagnose Stiff‐Person Spectrum Disorder”
Movement Disorders Clinical Practice, EarlyView.
João Moura +5 more
wiley +1 more source
Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3‐3B) Gene
Movement Disorders Clinical Practice, EarlyView.
Gianluca D'Onofrio +3 more
wiley +1 more source
Surgical Treatment of Tremor Syndromes: A Guide to the Clinician
Abstract Background Tremor is a common feature of multiple neurological conditions, and while medications can be effective in mild cases, surgical interventions are often required in moderate–severe syndromes or when medication side‐effects are unacceptable.
James Peters +5 more
wiley +1 more source
Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
In vivo evidence for NMDA receptor mediated excitotoxicity in a murine genetic model of Huntington Disease [PDF]
N-methyl-D-aspartate receptor (NMDAR) mediated excitotoxicity is implicated as a proximate cause of neurodegeneration in Huntington Disease (HD). However, this hypothesis has not been tested rigorously in vivo. NMDAR NR2B-subunits are the predominant NR2
Joe Tsien +4 more
core +1 more source
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source

