T2 Star-weighted MRI of Beta-propeller Protein-associated Neurodegeneration
نویسندگان
چکیده
منابع مشابه
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45
BACKGROUND Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associa...
متن کاملNeuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy
INTRODUCTION Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in reduced autophagic flux. This study describes the clinical and neuropathological features of a female 51 year old BPAN case. The clinical history includes learning disability and progressive gait abnormalities since childhoo...
متن کاملBeta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45
Dear Editor, Neurodegeneration with brain iron accumulation (NBIA) constitutes a group of genetic disorders characterized by iron deposition in the brain, and in particular the basal ganglia. These disorders are genetically heterogeneous, and their clinical features include cognitive impairment, psychiatric abnormality, and movement disorders such as parkinsonism and dystonia.1,2 Brain magnetic...
متن کاملFerrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)
Mutations in WDR45 gene, coding for a beta-propeller protein, have been found in patients affected by Neurodegeneration with Brain Iron Accumulation, NBIA5 (also known as BPAN). BPAN is a movement disorder with Non Transferrin Bound Iron (NTBI) accumulation in the basal ganglia as common hallmark between NBIA classes (Hayflick et al., 2013). WDR45 has been predicted to have a role in autophagy,...
متن کاملBeta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next-generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2021
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.5871-20