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…Safety of Iron Chelation in Patients with Brain Iron Overload
Objective: To assess the safety of iron chelation in the treatment of regional brain iron overload. Background: Excess brain iron is evident in neurodegenerative diseases…5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children
Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined. Background: To study the clinical picture…A case of Aceruloplasminemia with vertical saccadic eye movement abnormalities
Objective: We describe the phenotype, video-oculagraphic and neuroradiological findings of a case of aceruloplasminemia (AC). Background: Aceruloplasminemia presents in adulthood and is characterized by microcytic…Characterising the role of alpha-synuclein in ferroptotic programmed cell death in the context of Parkinson’s Disease
Objective: Despite the involvement of alpha synuclein (α-syn) pathology in Parkinson's disease (PD) pathology, the consequences on the neuropathology and the type of programmed cell…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…
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