Circadian rhythm alterations in an in vitro cellular model of Spinocerebellar ataxia type 17
Objective: To study in vitro expression of circadian rhythm genes (CLOCK, BMAL) in fibroblasts and neural cells of SCA17 patients. Background: Spinocerebellar Ataxia 17 (SCA17)…Does “5-2-1” identify patients with suspected Advanced Parkinson’s Disease? Evidence of clinical accuracy from G7 countries
Objective: Evaluate the psychometric properties of (i) the “5-2-1” criteria and (ii) consensus-driven clinical indicators of suspected advanced Parkinson’s disease (APD). Background: Recent consensus panel…The utility of single dose levodopa challenges in the management of Parkinson’s disease
Objective: To retrospectively review the clinical utility of single dose levodopa challenges in the management of Parkinson in a tertiary movement disorder clinic. Background: Acute…Cross-linguistic exploration of speech treatment for Parkinson’s disease: is a universal speech treatment approach plausible?
Objective: Examine speech treatment outcomes in people with Parkinson’s disease (PD) across different languages to explore the plausibility of a universal speech treatment approach. Background:…The efficacy of traditional Mikkyo Buddhism meditation in stress management of Parkinson’s syndrome patients
Objective: To investigate the efficacy of Asokukan in stress management of Parkinson’s syndrome patients. Background: Stress management is very important in intractable neurological diseases. Currently,…Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study
Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD). Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression…The Care Partner Perspective: Most Challenging Parkinson’s Symptoms
Objective: Our objective is to understand the impact that specific symptoms have on the care partners of people with Parkinson’s, considering gender (of both the…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Endorsement of self-reported non-motor symptoms is associated with higher self-rated motor experiences of daily living in MDS-UPDRS part 2 in Parkinson’s disease
Objective: To quantify the extent to which self-perceived motor limitations (MDS-UPDRS part 2) relate to self-reported levels of non-motor symptom severity. Background: The MDS-UPDRS part…MDSGene Systematic Review: Genotype-Phenotype Relations for Hereditary Spastic Paraplegia Genes SPAST, ATL1 & REEP1
Objective: To provide a comprehensive systematic review of the genotype-phenotype association in the most common three autosomal dominant genes of hereditary spastic paraplegia (HSP): SPAST,…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.