Late-onset cerebellar ataxia revealing a Pantothenate-kinase-associated neurodegeneration
Objective: Recall a case of genetic late-onset cerebellar ataxia with a specific clinical and radiological feature highly suggestive of Pantothenate-kinase-associated neurodegeneration(PKAN). Background: Cerebellar ataxia is…Exome sequencing of 584 Chinese proband with brain calcification
Objective: The aim of this study is to evaluate the diagnostic value of whole exome sequencing in Chinese patients with brain calcification, and to provide exome sequencing-based insights into the genetic…A multimodal approach for diagnosis of early Multiple System Atrophy (MSA)
Objective: To describe the use of neuroimaging and fluid biomarkers to improve the diagnostic accuracy of early MSA. Background: The diagnosis of early MSA is…Iron deposition and volume change of deep grey matter nuclei in PARK14 by Quantitative Susceptibility Mapping
Objective: PLA2G6 is the causative gene for autosomal recessive Dystonia-Parkinsonism (PARK14). The aim of this study was to explore the characteristics of iron deposition within…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…Mutant WDR45 leads to altered ferroptosis in β-propeller protein-associated neurodegeneration
Objective: To functionally characterize WDR45-mediated BPAN (Beta-propeller protein-associated neurodegeneration). Background: BPAN patients usually present with global developmental delay and autistic features in early childhood and…Neurodegeneration associated with pantothenate kinase in a Mexican Patient: Solving the Diagnostic Challenge of the Eye of Tiger
Objective: To describe the case of a patient with PKAN in Mexico, where we have a few information about inherited movement disorders, which makes the…Evaluation of hyperintense globus pallidus rim sign in seven-tesla MRI as a diagnostic biomarker in Wilson’s disease
Objective: We aim to study the sensitivity and specificity of hyperintense globus pallidus rim sign in WD diagnosis. Background: The diagnosis of Wilson disease (WD)…A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN
Objective: To study the clinical course, imaging and genetics of a case of late-onset dystonia-parkinsonism suspected to have Neurodegeneration with Brain Iron Accumulation (NBIA). Background:…
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