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https://www.readbyqxmd.com/read/28711740/early-manifestations-of-epileptic-encephalopathy-brain-atrophy-and-elevation-of-serum-neuron-specific-enolase-in-a-boy-with-beta-propeller-protein-associated-neurodegeneration
#1
Kyoko Takano, Kazuya Goto, Mitsuo Motobayashi, Keiko Wakui, Rie Kawamura, Tomomi Yamaguchi, Yoshimitsu Fukushima, Tomoki Kosho
Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. However, rare male patients have recently been reported with hemizygous germline mutations in WDR45 and severe clinical manifestations, such as epileptic encephalopathies...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643035/clinical-and-imaging-presentation-of-a%C3%A2-patient-with-beta-propeller-protein-associated-neurodegeneration-a%C3%A2-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#2
Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus...
June 22, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28551038/clinical-features-of-a-female-with-wdr45-mutation-complicated-by-infantile-spasms-a-case-report-and-literature-review
#3
Manami Morikawa, Kyoko Takano, Mitsuo Motobayashi, Naoko Shiba, Tomoki Kosho, Yozo Nakazawa, Yuji Inaba
We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G>C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late. Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. BPAN is known to be associated with various types of seizures, but there are few reports on infantile spasms, especially in females...
May 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28261264/ferrous-iron-up-regulation-in-fibroblasts-of-patients-with-beta-propeller-protein-associated-neurodegeneration-bpan
#4
Rosaria Ingrassia, Maurizio Memo, Barbara Garavaglia
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, while the impairment of iron metabolism in the different NBIA subclasses has not currently been clarified. We found the up-regulation of the ferrous iron transporter (-)IRE/Divalent Metal Transporter1 and down-regulation of Transferrin receptor in the fibroblasts of two BPAN affected patients with splicing mutations 235+1G>A (BPAN1) and 517_519ΔVal 173 (BPAN2)...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/27957548/a-novel-wdr45-mutation-in-a-patient-with-%C3%AE-propeller-protein-associated-neurodegeneration
#5
DonRaphael P Wynn, Stefan M Pulst
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 studies consistently demonstrate iron accumulation in the globus pallidus and substantia nigra with a subset of patients also demonstrating a halo of hyperintense signal surrounding a thin region of hypointense signal in the substantia nigra on T1-weighted imaging...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27487380/a-diagnostic-approach-for-neurodegeneration-with-brain-iron-accumulation-clinical-features-genetics-and-brain-imaging
#6
REVIEW
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
#7
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/27349079/-de-novo-mutations-in-the-autophagy-gene-wdr45-cause-senda-bpan
#8
REVIEW
Kazuhiro Muramatsu
No abstract text is available yet for this article.
May 2016: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/27307113/lessons-from-a-pair-of-siblings-with-bpan
#9
Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer, Michael C Kruer
No abstract text is available yet for this article.
July 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26859818/beta-propellar-protein-associated-neurodegeneration-a-rare-cause-of-infantile-autistic-regression-and-intracranial-calcification
#10
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/26577041/lessons-from-a-pair-of-siblings-with-bpan
#11
Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer, Michael C Kruer
Neurodegeneration with brain iron accumulation (NBIA) encompasses a heterogeneous group of inherited progressive neurological diseases. Beta-propeller protein-associated neurodegeneration (BPAN) has been estimated to account for ~7% of all cases of NBIA and has distinctive clinical and brain imaging findings. Heterozygous variants in the WDR45 gene located in Xp11.23 are responsible for BPAN. A clear female predominance supports an X-linked dominant pattern of inheritance with proposed lethality for germline variants in hemizygous males...
July 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26481852/elevation-of-neuron-specific-enolase-and-brain-iron-deposition-on-susceptibility-weighted-imaging-as-diagnostic-clues-for-beta-propeller-protein-associated-neurodegeneration-in-early-childhood-additional-case-report-and-review-of-the-literature
#12
REVIEW
Kyoko Takano, Naoko Shiba, Keiko Wakui, Tomomi Yamaguchi, Noriko Aida, Yuji Inaba, Yoshimitsu Fukushima, Tomoki Kosho
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a subtype of neurodegeneration with brain iron accumulation (NBIA). BPAN is caused by mutations in an X-linked gene WDR45 that is involved in autophagy. BPAN is characterized by developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. Brain magnetic resonance imaging (MRI) shows iron deposition in the bilateral globus pallidus (GP) and substantia nigra (SN)...
February 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26240209/novel-wdr45-mutation-and-pathognomonic-bpan-imaging-in-a-young-female-with-mild-cognitive-delay
#13
Michelle Long, Nishard Abdeen, Michael T Geraghty, Penelope Hogarth, Susan Hayflick, Sunita Venkateswaran
β-propeller protein-associated neurodegeneration (BPAN) is a recently identified X-linked dominant form of neurodegeneration with brain iron accumulation caused by mutations in the WDR45 gene. BPAN commonly presents as global developmental delay in childhood with rapid onset of parkinsonism and dementia in early adulthood and associated pathognomonic changes seen on brain MRI. In this case report, we present a pediatric patient with mild cognitive delay and pathognomonic MRI changes indicative of BPAN preceding neurologic deterioration who is found to have a novel de novo mutation in the WDR45 gene...
September 2015: Pediatrics
https://www.readbyqxmd.com/read/26123052/neuropathology-of-beta-propeller-protein-associated-neurodegeneration-bpan-a-new-tauopathy
#14
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...
June 30, 2015: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/26000824/the-autophagy-gene-wdr45-wipi4-regulates-learning-and-memory-function-and-axonal-homeostasis
#15
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
#16
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
https://www.readbyqxmd.com/read/25592411/analysis-of-the-c19orf12-and-wdr45-genes-in-patients-with-neurodegeneration-with-brain-iron-accumulation
#17
Anne Tschentscher, Gabriele Dekomien, Sophia Ross, Kirsten Cremer, Guido M Kukuk, Jörg T Epplen, Sabine Hoffjan
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of diseases presenting with movement disorders and brain iron deposits. In addition to NBIA subtypes caused by mutations in PANK2 and PLA2G6, mutations in the C19orf12 gene were recently described as the third frequent cause of NBIA (called mitochondrial membrane protein-associated neurodegeneration, MPAN). Additionally, the X-linked gene WDR45 was found causative for a special subtype named static encephalopathy in childhood with neurodegeneration in adulthood (also called BPAN); however, analysis of this gene in a broader spectrum of NBIA has not been reported yet...
February 15, 2015: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/25263061/early-manifestations-of-bpan-in-a-pediatric-patient
#18
Nobuhiko Okamoto, Tae Ikeda, Tatsuji Hasegawa, Yuto Yamamoto, Kazumi Kawato, Tomohiro Komoto, Issei Imoto
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with β-propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra...
December 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25019641/scavenging-and-characterization-of-short-lived-radicals-using-a-novel-stable-nitroxide-radical-with-a-characteristic-uv-vis-absorption-spectrum
#19
Ryuta Toba, Hiroaki Gotoh, Kazuhisa Sakakibara
A stable tert-butyl(10-phenyl-9-anthryl)nitroxide (BPAN) radical was newly synthesized and used for the capture/characterization of reactive radicals. Adducts obtained from the reactions of BPAN with in situ generated reactive radicals showed excellent stability, assuring complete isolation and purification. The structures of the adducts were established by LC-MS and NMR analyses.
August 1, 2014: Organic Letters
https://www.readbyqxmd.com/read/24790802/characteristic-mri-findings-in-beta-propeller-protein-associated-neurodegeneration-bpan
#20
Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihisa Takiyama
A 31-year-old woman presented with severe dystonia-parkinsonism. She had nonprogressive psychomotor retardation and cognitive dysfunction from childhood without evidence of dystonia or parkinsonism. At age 30, she then developed severe dystonia and gait disturbance. There was neither dystonia nor parkinsonism before age 30. MRI revealed cerebral atrophy and iron accumulation in the globus pallidus and substantia nigra (figure 1, A-D). The characteristic MRI findings were hyperintensity of the substantia nigra with a central band of hypointensity in T1-weighted axial slices (figure 1, B)...
April 2014: Neurology. Clinical Practice
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