TUBB4A mutation: Expansion of H-ABC phenotype with apparent iron accumulation in the basal ganglia – case report and literature review
Objective: This case report expand the phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum. Background: Background: Hypomyelination with atrophy of the basal ganglia…Differentiating the substantia nigra pars compacta and ventral tegmental area in early-stage Parkinson’s disease using quantitative susceptibility mapping
Objective: To assess iron levels in dopaminergic midbrain nuclei using quantitative susceptibility mapping for identification of biomarkers of PD. Background: The midbrain dopaminergic system plays…NBIA-like MRI findings in a patient with Huntington’s disease
Objective: To report a rare case of Huntington’s disease (HD) with MRI findings resembling neurodegeneration with brain iron accumulation (NBIA). Background: HD and NBIA are…Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis
Objective: To unravel the disease mechanisms underlying neurodegeneration with brain iron accumulation (NBIA) and to identify potential novel disease genes. Background: NBIA is clinically and…Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia
Objective: Identification and functional analysis of the disease-causing gene in a family with dominantly inherited cervical dystonia. Background: With the introduction of next generation sequencing…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,…Expanding the clinical phenotype of BPAN: A case report
Objective: To describe an atypical presentation of a rare NBIA disorder Background: Beta-propeller protein-associated neurodegeneration (BPAN) manifests in infancy as an initially static encephalopathy with…Intellectual disability with spastic ataxia: Atypical Infantile neuroaxonal dystrophy with absent spheroids
Objective: Introduction Developmental regression with spastic ataxia is a syndrome with differentials being leukodystrophy, HSP, Frederich’s ataxia, ARSACS, cerebrotendinous xanthomatosis etc.Neuronal brain iron deposition is…Kufor-Rakeb syndrome and a rare ATP13A2 missense mutation in a Portuguese patient
Objective: To describe a genetically proven case of Kufor-Rakeb syndrome (KRS) in a young portuguese patient with juvenile parkinsonism. Background: Mutations in the ATP13A2 gene…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…
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