Early-onset parkinsonism and halo sign: Beta-propeller protein-associated neurodegeneration
نویسندگان
چکیده
منابع مشابه
Beta‐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.
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 کاملPatient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hyperton...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2020
ISSN: 1817-1745
DOI: 10.4103/jpn.jpn_62_20