Cockayne Syndrome manifesting as late adult onset cerebellar ataxia: expanding the phenotype
Objective: To report an atypical case of Cockayne Syndrome manifesting as pure adult onset cerebellar ataxia. Background: Cockayne Syndrome (CS) is a rare autosomal recessive…The progression rate of sporadic adult-onset cerebellar ataxia : 1-year follow up study
Objective: To assess progression rate of the sporadic adult-onset ataxia (SAOA) and usefulness of well-known evaluation tools. Background: The sporadic adult-onset ataxia (SAOA) is a…The applicability of the Scale for Assessment and Rating of Ataxia (SARA) in toddlers
Objective: In healthy toddlers (2-4 years of age), we aimed to evaluate: 1. the feasibility of SARA performances and 2. the reliability of SARA sub-score…Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency
Objective: To present two rare cases of RTD type 2 with co-existing AMP deaminase deficiency. Background: RTD, formerly known as Brown-Vialetto-Van Laere syndrome, is a…Huntington Disease-Like 2: A Case Presentation and Review of the Literature
Objective: To present a case of Huntington Disease-Like 2 (HDL2). HDL2 is rare and phenotypically similar to Huntington’s Disease (HD). However the gene, chromosome, and…Progressive Myoclonus Ataxia: An International Database
Objective: Our aim is to create an international database for patients suffering from the rare syndrome of progressive myoclonus ataxia (PMA), containing their clinical, electrophysiological…LY-341,495, an mGlu2/3 antagonist, abolishes the anti-dyskinetic and anti-psychotic effects of the mGlu2/3 orthosteric agonist LY-354,740 in the MPTP-lesioned marmoset
Objective: We aim to determine the effect of orthosteric blockade of metabotropic glutamate 2 and 3 (mGlu2/3) receptors with LY-341,495 on the anti-dyskinetic and anti-psychotic…Safinamide reduces membrane excitability and synaptic transmission of striatal spiny projection neurons in a rat model of Parkinson’s disease
Objective: The effect of safinamide (saf) on the electrical membrane properties and both excitatory and inhibitory synaptic transmission of striatal spiny projection neurons (SPNs) was…Shedding light on the relationship between dyskinesia assessed by a wearable device and impulsive compulsive behaviour in Parkinson’s disease
Objective: To evaluate the relationship between the presence of dyskinesia objectively detected using a wearable device and the presence of active and past impulsive compulsive…The role of attention in functional movement disorders
Objective: Identify where the attentional focus naturally lies in functional movement disorders and evaluate which abnormal attentional foci contribute to symptom generation. The ultimate aim…
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