Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation inWDR45
نویسندگان
چکیده
منابع مشابه
Beta-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 کاملA 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 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.
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 کاملA novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal iron accumulation in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood or NBIA 5, is an X-linked dominant subtype of NBIA.1 Brain MRI stud...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2015
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2015.11.3.289