Atypical Onset and Presentation of Rare DYT30-VPS16 Dystonia
Objective: To provide a description of a young patient with atypical onset and presentation of rare DYT30-VPS16 dystonia. Background: To date, 44 patients from 31…Drawing Impairments Linked to Altered Cortico-Subcortical Interactions in Writer’s Cramp
Objective: We investigated neurophysiological mechanisms of writer's cramp dystonia during drawing movements. Background: Writer’s cramp is a focal task-specific dystonia characterized by involuntary muscle contractions…Schindler Disease (a Rare Autosomal Recessive Lysosomal Storage Disorder)
Objective: This case report discusses the diagnostic difficulties and treatment strategies for Schindler disease type III and provides insightful information on its clinical manifestations Background:…Dystonic lower limb tremor secondary to involvement of the substantia nigra in a patient with Neurotoxoplasmosis and HIV
Objective: Describes a case of lower limb tremor attributed to toxoplasmosis affecting the substantia nigra Background: Cerebral toxoplasmosis can result in diverse clinical presentations due…The Dutch Yips Study- part V: The VIdeo Panel (VIP)-Study
Objective: At least 10 international in Movement Disorders specialised neurologists participate in a research study that aims to better understand the origins and the phenomenology of…Clinical and paraclinical aspects of extrapyramidal disorders in patients with cerebrovascular pathology
Objective: To study of clinical and paraclinical aspects of extrapyramidal disorders in patients with cerebrovascular pathology Background: A considerable proportion of patients with chronic cerebral…Dentatorubral–Pallidoluysian Atrophy (DRPLA) : A case series of nine patients from western India
Objective: To study the clinicoradiological and genetic profile of confirmed Dentatorubral–Pallidoluysian Atrophy (DRPLA) cases in Western India Background: DRPLA is a hereditary disease caused due to trinucleotide repeat…The Unlikely Treatable A Case of Ataxia
Objective: To present the first reported Colombian case in a patient presenting COQ8A-ataxia with bilateral palpebral ptosis, who had a favorable response to CoQ10 supplementation…Excitatory/inhibitory Balance Differences Suggests Distinct Pathophysiology Between Blepharospasm and Cervical Dystonia
Objective: To determine if excitatory/inhibitory balance (E/I) within the sensorimotor network is linked to motor symptoms in two distinct subtypes of isolated focal dystonia. Background:…Action-Induced Dystonic Opisthotonus as an Atypical Presentation in Ataxia Telangiectasia
Objective: We present a rare case of Ataxia-telangiectasia (AT) characterized by intermittent action-induced dystonic opisthotonus causing frequent vomiting after meals intake [figure1]. Background: AT is…
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