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BPAN(beta-propeller protein-associated neurodegeneration)

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https://www.readbyqxmd.com/read/27487380/a-diagnostic-approach-for-neurodegeneration-with-brain-iron-accumulation-clinical-features-genetics-and-brain-imaging
#1
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A G Teive, Francisco Cardoso, Orlando G P Barsottini
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome...
July 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27349085/-a-woman-with-beta-propeller-protein-associated-neurodegeneration-identified-by-the-wdr45-mutation-presenting-as-rett-like-syndrome-in-childhood
#2
Naoya Morisada, Syuichi Tsuneishi, Kazuhiro Taguchi, Ryuzaburo Yagi, Masahiro Nishiyama, Daisaku Toyoshima, Taku Nakagawa, Yasuhiro Takeshima, Satoshi Takada, Kazumoto Iijima
Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement. She had a febrile convulsion at 6 months of age but there was no history of epilepsy...
May 2016: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/26859818/beta-propellar-protein-associated-neurodegeneration-a-rare-cause-of-infantile-autistic-regression-and-intracranial-calcification
#3
Sangeetha Yoganathan, Gautham Arunachal, Sniya Valsa Sudhakar, Venkateswaran Rajaraman, Maya Thomas, Sumita Danda
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein...
April 2016: Neuropediatrics
https://www.readbyqxmd.com/read/26123052/neuropathology-of-beta-propeller-protein-associated-neurodegeneration-bpan-a-new-tauopathy
#4
R Paudel, A Li, S Wiethoff, R Bandopadhyay, K Bhatia, R de Silva, H Houlden, J L Holton
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 childhood followed by progressive dystonic features in young adulthood. Brain imaging revealed generalised brain atrophy and bilateral mineralisation of the globus pallidus and substantia nigra...
2015: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/26000824/the-autophagy-gene-wdr45-wipi4-regulates-learning-and-memory-function-and-axonal-homeostasis
#5
Yan G Zhao, Le Sun, Guangyan Miao, Cuicui Ji, Hongyu Zhao, Huayu Sun, Lin Miao, Saori R Yoshii, Noboru Mizushima, Xiaoqun Wang, Hong Zhang
WDR45/WIPI4, encoding a WD40 repeat-containing PtdIns(3)P binding protein, is essential for the basal autophagy pathway. Mutations in WDR45 cause the neurodegenerative disease β-propeller protein-associated neurodegeneration (BPAN), a subtype of NBIA. We generated CNS-specific Wdr45 knockout mice, which exhibit poor motor coordination, greatly impaired learning and memory, and extensive axon swelling with numerous axon spheroids. Autophagic flux is defective and SQSTM1 (sequestosome-1)/p62 and ubiquitin-positive protein aggregates accumulate in neurons and swollen axons...
2015: Autophagy
https://www.readbyqxmd.com/read/25744623/high-frequency-of-beta-propeller-protein-associated-neurodegeneration-bpan-among-patients-with-intellectual-disability-and-young-onset-parkinsonism
#6
Kenya Nishioka, Genko Oyama, Hiroyo Yoshino, Yuanzhe Li, Takashi Matsushima, Chisen Takeuchi, Yoko Mochizuki, Madoka Mori-Yoshimura, Miho Murata, Chikara Yamasita, Norimichi Nakamura, Yohei Konishi, Kazuki Ohi, Keiji Ichikawa, Tatsuhiro Terada, Tomokazu Obi, Manabu Funayama, Shinji Saiki, Nobutaka Hattori
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder, characterized by the accumulation of iron in regions such as the basal ganglia. We enrolled 28 patients with childhood intellectual disability and young-onset parkinsonism (≤40 years at onset) and 4 patients with infantile neuroaxonal dystrophy. All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated...
May 2015: Neurobiology of Aging
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