Benign hereditary chorea with nocturnal dyskinesias
Objective: To describe a case of NKX2-1 mutation presenting with nocturnal hyperkinetic movements. Background: NKX-2-1 mutation is associated with benign hereditary chorea, respiratory distress in…Good response to bilateral GPI-DBS after 2 years in generalized dystonia due to a mutation in the KMT2B gene (DYT28)
Objective: To report a case of generalized primary dystonia due to a mutation in the histone methyltransferase gene (KMT2B) treated with globus pallidus interna deep…Optimization of Region of Interest Analysis of the Superior Colliculus for Improved Activation Detection in Cervical Dystonia
Objective: Optimization of Region of Interest (ROI) Analysis of the Superior Colliculus for Improved Activation Detection in Cervical Dystonia Background: Cervical dystonia (CD) is a…The association of primary dystonia with tics – chance or new syndrome?
Objective: This study aimed to evaluate the association between dystonia and tics as a primary clinical entity. Background: Primary cranio-cervical dystonia (PCCD) is an idiopathic…Rapid onset hemidystonia-hemichorea in DYT 12: Is “SWAN NECK” limb deformity a clinical sign?
Objective: Introduction Rapid onset dystonias are uncommon.Common causes are drugs, post-stroke dystonia, or metabolic causes like hypo/hyperglycemia,hypocalcemia or hypomagnesemia Background: Case presentation 11 year boy…A New Scale to Measure Impairment in Patients with Writer’s Cramp
Objective: To validate a new writer’s cramp impairment scale (WCIS) and compare it with an existing writer’s cramp rating scale (WCRS) Background: Writer’s cramp (WC)…Radiofrequency pallidotomy for Embouchure dystonia
Objective: To investigate efficacy of pallidotomy for embouchure dystonia Background: Complex and fine adjustments of perioral muscles, regulating airflow into the mouthpiece, known as embouchure,…Anemia in men and increased Parkinson’s disease risk: A population-based cohort study using big data
Objective: To evaluate hemoglobin (Hb) levels changes preceding PD diagnosis and the association with PD risk. Background: Alteration of iron levels in the brain has…White matter microstructural alterations in Huntington Disease: When neurodegeneration starts?
Objective: The aim of our study is to characterize in detail the white matter (WM) microstructure alterations in Huntington Disease (HD) using the diffusion tensor…Huntington disease like 2 in South Africa
Objective: Background: Since the Huntingtin gene was identified in 1993, it has been recognized that a small proportion of patients with a clinical syndrome resembling…
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