Caudate nucleus atrophy as an early finding of Neuroferritinopathy
Objective: To report the presence of caudate nucleus atrophy from early stages of Neuroferritinopathy. Background: Neuroferritinopathy is a form of neurodegeneration with brain iron accumulation,…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…Deferiprone combined with phlebotomy for aceruloplasminemia
Objective: To evaluate the efficacy and safety of chelation therapy with deferiprone combined with phlebotomy in reducing iron stores and neurological progression in aceruloplasminemia. Background:…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…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…
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