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…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…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…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)…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…PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…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…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…Aceruloplasminemia Presenting as Huntington’s Disease –Look –Alike with Unique MRI Features
Objective: To report case of generalised chorea due to aceruloplasminemia caused by novel mutation in the CP gene Background: Aceruloplasminemia is a type of Neurodegeneration…Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6
Objective: To describe three cases of complicated hereditary spastic paraplegia (cHSP) like presentation in PLA2G6. Background: PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative…
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