ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION
Objective: To report a novel case of early-onset parkinsonism due to a presenilin 1 gene (PSEN1) mutation. Background: Mutations in PSEN1 gene are the most…Atypical parkinsonism related to a rare variant in the PLA2G6 gene
Objective: To describe a patient with atypical parkinsonism, carrier of a rare PLA2G6 gene variant. Background: PLA2G6-associated neurodegeneration (PLAN) results from mutations in PLA2G6 gene…Comorbidities in Huntington’s disease: An Enroll-HD analysis
Objective: Determine the frequency of comorbidities in people with Huntington’s disease (PwHD) in comparison to non-carrier controls in the Enroll-HD cohort. Background: Despite some publications…Development of a quality-of-life (QoL) questionnaire for hereditary spastic paraplegia (HSP) patients and caregivers.
Objective: Patient reported outcomes like “Health-Related Quality of Life” are one of the key outcome parameters of clinical studies. The aim of this project within…Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))
Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…Homozygous PRKN exon 3 deletion in an early-onset Parkinson’s disease family from the Kadazan-Dusun ethnic group indigenous to Sabah, Malaysia
Objective: To determine the causal gene for early-onset Parkinson’s disease (PD) in a Malaysian family of Kadazan-Dusun ethnicity. Background: Among Asian populations, relatively little is…Metabolic alterations in a Drosophila model of Parkinson’s disease
Objective: Identification of metabolic alterations that could be contributing to Parkinson’s disease (PD) physiopathology and become new biomarkers or therapeutic targets for the disease. Background:…Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism
Objective: To identify subclinical changes of balance and gait in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the XDP-causing mutation. Background: XDP is…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Autosomal recessive spinocerebellar ataxia type 10: a case report in Mexico
Objective: To provide a comprehensive description of the first clinical case of SCAR10 diagnosed in Mexico. Background: The autosomal recessive spinocerebellar ataxia type 10 is…
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