Clinico-radiological Phenotype of a Unique Family with Mutations in PRKN Over Three Decades
Objective: To report the clinico-radiological phenotype and progression of a female proband and her parents with mutations in the PRKN gene. Background: Bi-allelic PRKN mutations…Genetic Architecture of Essential Tremor: Clinical Misdiagnosis and Structural Variant Contributions to Neurobiological Pathways
Objective: To determine the proportion of other neurological disorders mimicking essential tremor (ET) and investigate the contribution of structural variants (SVs) to ET pathogenesis. Background:…Clinical feasibility of a semi-automated Olfactometry System in α-Synucleinopathies
Objective: To evaluate the feasibility, performance, and diagnostic accuracy of a semi-automated olfactometry system (NOS-DX1000) for standardized assessment of olfactory dysfunction in α-synucleinopathies. Background: Olfactory…Resting-state pupil fluctuations reflect monoaminergic brainstem dysfunction associated with non-motor symptoms in early Parkinson’s disease
Objective: To determine whether resting-state pupil fluctuations reflect structural and functional impairment of monoaminergic brainstem nuclei and are associated with non-motor symptom burden in early…Altered Glia Limitans Structure and Function in Parkinson’s Disease and Multiple System Atrophy
Objective: To investigate functional alterations of the glia limitans and the consequent changes in glymphatic system dynamics and CD4⁺ T cell infiltration in the disease-affected…Cross-trait and Multi-polytranscriptomic Score Prediction of Parkinson’s Disease
Objective: To integrate genome-wide association study summary statistics, expression quantitative trait loci (eQTL), individual-level RNA sequencing data and machine-learning approaches to identify molecularly informed cross-trait…Diffusion MRI Evidence of Cerebellar Involvement in Cognitive Dysfunction in Parkinson’s Disease
Objective: To determine whether cerebellar axonal microstructural abnormality is associated with cognitive performance in PD. Background: Cognitive impairment in Parkinson’s disease (PD) often affects executive…Basal Ganglia Hypointensity Associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS)
Objective: To present a new case of glucose transporter type 1 deficiency syndrome (GLUT1-DS) diagnosed in adulthood and to describe the associated radiological findings. Background:…DCTN1 Gene: A p.(Gly59Ser) Family Report
Objective: Describing two patients from an Italian family carrying the DCTN1 p.(Gly59Ser) and their phenotypes. Background: Mutations in Dynactin 1 (DCTN1) gene are responsible for…Association of the GCH1 p.Ser80Asn variant with Parkinson’s disease in East Asian populations
Objective: To investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant. Background: Heterozygous variants in GCH1 are the most frequent cause…
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