Dysphagia in Adults with Niemann-Pick Disease Type C
Objective: We aimed to (1) characterise baseline swallow function in people with NPC and (2) evaluate the impact of Miglustat treatment on the swallowing process.…Looking “cherry red spot myoclonus” in the eyes
Objective: To describe eye movements in a cohort of patients affected with Sialidosis type 1. Background: Sialidosis, or Mucolipidosis type 1, is a rare autosomal…Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease
Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…An early-onset parkinsonism revealing a Gaucher disease with a heterozygous mutation in GBA gene: A case report
Objective: To report a case of a late-onset Gaucher disease (GD) revealed by an atypical Parkinson disease. Background: GD is an autosomal recessive lysosomal disorder,…FDG-PET and metabolomics in PD-associated GBA variants
Objective: To assess the clinical, cognitive, metabolic, and imaging phenotypes of PD patients carrying the variants p.E365K and p.T408M in the GBA gene (NM_000157.3). Background:…The Polymorphism of SREBF1 Gene rs11868035 G/A Is Associated with susceptibility to Parkinson’s disease in a Chinese Population
Objective: The potential association between the single-nucleotide polymorphism of two functional genes (SREBF1gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson’s disease (PD) in…Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)
Objective: To determine the interaction between glucocerebrosidase deficiency and acid sphingomyelinase deficiency in a tractable vertebrate model system of Parkinson's disease. Background: Heterozygous glucocerebrosidase (GBA)…Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives
Objective: To identify parkinsonian features in a cohort of GD patients and their relatives. Background: GD is a lysosomal storage disorder caused by GBA1 mutations…Lysosphingolipids accumulation in macrophage model of Gaucher disease
Objective: The aim of this study was to investigate if GCase deficiency in macrophage model of GD lead to lysosphingolipids accumulation. Background: Mutations in the…Pharmacological modulation of lysosomal glucocerebrosidase activity in the Thy1-aSYN mouse model of Parkinson’s disease
Objective: To study the pharmacological modulation of glucocerebrosidase activity in the Thy1-aSYN mouse model of Parkinson's disease (PD). Background: PD is a complex neurodegenerative disorder…
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