GRIN2D is a cause of autosomal dominant form of Parkinson’s disease
Objective: To identify novel genes involved in the familial form of Parkinson’s disease (PD) in the Indian population. Background: Most of the familial forms of…Correlations between cognitive impairments and brain abnormalities in Wilson disease: a systematic review
Objective: To provide an overview of brain regions involved in cognitive impairment (CI) in Wilson disease (WD) with the aim of understanding pathomechanisms. Background: WD…Longitudinal Program to Prevent PD (LoPP-PD): Multimodal Risk Stratification Informs Personalized Intervention
Objective: Longitudinal evaluation of personalized intervention strategies informed by detailed clinical and laboratory biomarker analysis to reduce relative risk of Parkinson’s disease in first degree…Novel bi-allelic variants in FBXO7 in a family with young-onset typical Parkinson’s disease
Objective: To describe the case of two brothers affected by typical young-onset Parkinson’s disease (PD), carrying novel compound heterozygous variants in FBXO7. Background: Bi-allelic mutations…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…Merging global cohorts of manifesting and non-manifesting carriers of pathogenic variants in known Parkinson’s disease genes
Objective: To create a global cohort of manifesting and non-manifesting carriers of pathogenic variants in known monogenic Parkinson's disease (PD) genes, such as LRRK2, PRKN, and PINK1, to better…Biochemical markers of glucocerebrosidase (GCase) deficiency in primary macrophages derived from GBA1 mutation carriers with and without Parkinson’s disease
Objective: The aim of the present study was to assess biochemical markers in primary macrophages that could distinguish patient with Parkinson’s disease linked to mutations…
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