A Pair of Brothers with Aceruloplasminemia Due to a Novel Nonsense Mutation: Unusual Phenotype and Neurological Improvement After Iron-Chelation Therapy with Deferasirox.
Objective: We describe the phenotype of a novel ceruloplasmin mutation and the neurological response to different iron-chelating therapies. Background: Aceruloplasminemia (AC) is a rare autosomal…Dynamics of brain iron content and cortical pencil lining in healthy aging: An MRI study
Objective: To characterize the dynamics of age-dependent iron accumulation in the brain with susceptibility-weighted imaging (SWI). Background: Neurodegeneration with brain iron accumulation (NBIA) is characterized…Brain iron accumulation in Wilson disease measured by quantitative susceptibility mapping
Objective: To investigate whether cerebral iron deposits in Wilson disease (WD) patients are associated with decreased serum ceruloplasmin oxidase activity and/or clinical severity. Background:…Marc Chagall’s L’homme à La Tète Renversée (Man with His Head Thrown Back) – An Artistic Depiction of Severe Retrocollis in Neurodegeneration with Brain Iron Accumulation
Objective: To propose that Marc Chagall’s L’Homme À La Tète Renversée (Man With His Head Thrown Back) could be a depiction of severe retrocollis due…C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN
Objective: To genetically and clinically characterize a series of Turkish patients affected by neurodegeneration with brain iron accumulation (NBIA) compatible with an autosomal recessive form…The predominant parkinsonian phenotype in beta propeller associated neurodegeneration (BPAN)
Objective: Describe three BPAN patients with two different phenotypes and explore the phenomenology of patients reported in the literature. Background: De novo mutations in WD repeat…Multimodal voxel-based analysis of the infratentorial brain region in Richardson’s syndrome, progressive supranuclear palsy-parkinsonism, Parkinson variant of multiple system atrophy and Parkinson’s disease
Objective: Voxel-based analysis was applied to MRI parameters of iron content (transverse relaxation rate, R2*), microstructural integrity including mean diffusivity (MD) and fractional anisotropy (FA)…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…
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