Diagnostic challenges in a case of SLC6A3-related Dopamine Transporter Deficiency Syndrome
Objective: We report a case presenting with symptoms of classical Dopamine Transporter Deficiency Syndrome (DTDS) with negative results on initial whole-exome sequencing (WES), but eventually…Comparison of original and revised versions of the University of Pennsylvania Smell Identification Test
Objective: To assess agreement between the original and revised versions of the University of Pennsylvania Smell Identification Test (UPSIT). Background: Recently published age/sex-specific UPSIT percentiles,…SpeechATAX: A rater blinded randomized controlled trial of intensive home-based biofeedback therapy for dysarthria in progressive ataxia
Objective: To investigate the effectiveness of a digitized intensive home-based speech rehabilitation, SpeechATAX, in people with progressive hereditary ataxia. Background: The loss of the ability…The diagnosis value of dopaminergic responsiveness of Parkinson’s disease： a systematic review and meta-analysis
Objective: aimed to confirm the diagnostic value/accuracy of levodopa and/or apomorphine challenge test in parkinsonian syndromes (PDS) to assess their value in the diagnosis of…Characterization of social cognition impairment in Huntington‘s disease
Objective: The aim of the present study is to characterize social cognition deficits in patients of Huntington’s disease (HD) from China and to assess associated factors. Background: Huntington’s…Cerebral Topography of [11C]-Flumazenil GABAA Receptor Expression in Parkinson’s Disease Fallers and Freezers
Objective: To examine the cerebral topography of GABAA Receptor Expression in Parkinson’s Disease (PD) Fallers and Freezers. Background: Episodic mobility disturbances, like falls and freezing…Creutzfeldt-Jakob Disease misdiagnosed as Corticobasal degeneration
Objective: We described clinical, radiologic, and neuropathological findings of a patient with Creutzfeldt-Jakob Disease who presented antemortem with clinical features suggestive of corticobasal degeneration. Background:…MR-guided focused ultrasound pallidothalamic tractotomy in non-tremor dominant (akinetic-rigid) Parkinson’s disease treatment
Objective: The study aims to show that unilateral MR-guided focused ultrasound (MRgFUS) treatment akinetic-rigid Parkinson's disease (PD) can be safe and effective. Background: Parkinson's disease…Mutation screening of PCDHGB1 variants in a large dystonia cohort
Objective: We aimed to systematically evaluate the genetic associations of PCDHGB1with dystonia in a large Chinese dystonia cohort. Background: Recently, PCDHGB1has been identified to be a novel causative…Is cognitive function related to daily life gait and turning in people with Parkinson’s disease?
Objective: We investigated whether cognition and daily-life mobility are associated in people with mild-to-moderate Parkinson's disease (PD). Background: PD is responsible for more mobility disability…
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