Genetic and functional analysis of CCDC88C mutations in patients with Parkinson’s disease.
Objective: To investigate the association between rare deleterious CCDC88C variants and PD. Background: SCA40 is a rare form of spinocerebellar ataxia caused by heterozygous mutations…Myotonic Dystrophy type 1 presenting as postural tremor
Objective: Description of a clinical case of extra-pyramidal features in a patient with myotonic dystrophy type 1. Background: Myotonic dystrophy type 1 (MD-1) is an…The long and short of contemporary parkinsonism survival: A 47-year clinicopathological study
Objective: We report a 47-year survival study of autopsy verified Parkinson syndrome (PS) and Parkinson’s disease (PD) cases. The objectives were: 1) to identify PS…Management of constipation in Parkinson’s patients presenting with acute sigmoid volvulus to Royal Berkshire Hospital,Reading, UK
Objective: To evaluate management of constipation in acute sigmoid volvulus in Parkinson’s. Background: Constipation is one of the main and disabling non motor symptoms in…Case report on the use of a High Frequency Vibrotactile Stimulation and Cueing Device over 4 months in a patient with Parkinson’s Disease and refractory symptoms
Objective: To document motor symptoms of a patient with PD whilst using a Focussed Vibrotactile Stimulation and Cueing Device (FVCD). Background: A 77-year-old patient with…Response of extraocular movements in parkinson’s disease to levodopa: an electrooculographic perspective
Objective: To determine the response of latencies and amplitudes of saccadic movements to Levodopa in idiopathic Parkinson’s Disease. Background: Neurodegeneration in Parkinson’s Disease (PD) increases…Exosomal α-synuclein in Multiple system atrophy and parkinson’s disease cause distinct synucleinopathies
Objective: In this study, we investigated the differences in exosomal α-syn between MSA and PD patients. Background: Parkinson's disease (PD) and multiple system atrophy (MSA)…An acoustic-perceptual analysis of speech in clinical PSP phenotypes.
Objective: To examine the speech profile in a cohort of patients with Progressive Supranuclear Palsy with Richardson’s syndrome (PSP-RS) and PSP with predominant parkinsonism (PSP-P)…Making Parkinson’s care complete and global: an international survey of the “vitals” dashboard of Parkinson’s disease
Objective: In this observational survey, we report on a multicentre dataset addressing whether such vitals are being routinely assessed. Background: Parkinson’s disease (PD), considered a…Alterations of gait as an early marker of incipient alpha-synucleinopathy
Objective: To investigate early motor signs of α-synucleinopathies in patients with isolated REM sleep behavior disorder (iRBD) using gait analysis. Background: iRBD is an early…
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