A Case of Neurodegeneration with Brain Iron Accumulation with novel Adaptor Protein-4 M1 subunit mutation
Objective: To present a patient with clinical and radiological features of neurodegeneration with brain iron accumulation (NBIA) due to a novel variant mutation in adaptor…Absence of nigrosome as a finding in a patient with suspected atypical parkinsonism.
Objective: Reviewing typical neuroimaging features of the substantia nigra.Noting that the absence of nigrosome 1 has also been seen in atypical parkinsonisms. Background: It 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…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…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…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)…
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