Conservative iron chelation for Neuroferritinopathy
Objective: Evaluate the safety and efficacy of a conservative mode of iron chelation with deferiprone 30 mg/kg/day in neuroferritinopathy to limit iron-related neurodegeneration and associated…PLA2G6-related dystonia-parkinsonism in identical twins manifesting at an advanced age: a case report and review of the literature.
Objective: To report a rare presentation of a rare disease and illustrate the range of phenotype seen in PLA2G6-associated dystonia-parkinsonism (PLADP). Background: PLA2G6 encodes a…Non-invasive imaging markers of iron accumulation in Multiple System Atrophy
Objective: To define the localization and extent of iron accumulation in multiple system atrophy (MSA). Background: Elevated iron concentration in the basal ganglia has been…Novel PLA2G6 Mutation Presenting as Early-Onset Parkinson’s Disease
Objective: To report a case of a novel mutation in the PLA2G6 gene resulting in early-onset Parkinson’s Disease. Background: The phospholipase A2 group VI (PLA2G6)…Intrasubject subcortical quantitative referencing to make quantitative MRI sensitive to Parkinson’s disease
Objective: To assess the changes in R2* occurring in PD patients compared to controls, a multicenter transversal study was carried out in a large cohort of…Relationship of subcortical iron deposition and mitochondrial dysfunction in patients with idiopathic Parkinson’s disease
Objective: To investigate subcortical brain iron deposition as a potential predictor of the bioenergetic status in patients with idiopathic Parkinson's disease. Background: The underlying pathophysiology…Regional brain iron and gene expression variation in Parkinson’s disease
Objective: To shed light on the genes underlying increased cortical iron deposition in Parkinson’s disease (PD). Background: Oxidative stress secondary to brain iron accumulation is…The modification of iron accumulation in nigrosome by levodopa treatment in early Parkinson’s disease
Objective: The study was to investigate the alteration of iron accumulation in nigrosome for the early treatment of dopamine loss in PD. Background: Iron accumulation…A combined imaging based biomarker for Parkinson’s disease using diffusion kurtosis and quantitative susceptibility mapping
Objective: We aimed to investigate the utility of combined quantitative susceptibility mapping (QSM) and diffusion kurtosis imaging (DKI) as complementary tools in characterizing pathological changes…SPG21 in Europe: Mutations outside the Amish community
Objective: We herein report two Austrian families harbouring mutations in the SPG21-gene. Background: SPG21 is a complicated, autosomal recessive hereditary spastic paraplegia. It presents with…
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