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:…Clinical,imaging and genetic correlations in a Neuronal Brain Iron accumulation cohort from India
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics, of patients with neurodegeneration with brain iron accumulation (NBIA), with genetics and establish genotype-phenotype correlations…Compound heterozygous mutation of the Beta galactosidase 1 gene presenting with familial dystonia and spondylo-epiphyseal dysplasia
Objective: To describe a family with dystonia and spondylo-epiphyseal dysplasia Background: Childhood onset Generalized dystonia is usually associated with genetic causes. Method: We present a…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…
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