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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
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
Kazuhiro Muramatsu
No abstract text is available yet for this article.
May 2016: No to Hattatsu. Brain and Development
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
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
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
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
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
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
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
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
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
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
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
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
Willem M A Verhoeven, Jos I M Egger, David A Koolen, Helger Yntema, Simone Olgiati, Guido J Breedveld, Vincenzo Bonifati, Bart P C van de Warrenburg
Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare neuropsychiatric syndromes characterized by iron accumulation in the basal ganglia. The pantothenate kinase-associated neurodegeneration (PKAN) was the first NBIA form to be genetically identified almost 15 years ago. Nowadays, eight types can be genetically distinguished. More recently, a novel NBIA was delineated and termed Static Encephalopathy of childhood with Neurodegeneration in Adulthood (SENDA), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with an onset in the second to third decade...
March 2014: Parkinsonism & related Disorders
Tobias B Haack, Penny Hogarth, Allison Gregory, Holger Prokisch, Susan J Hayflick
Beta-propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of neurodegeneration with brain iron accumulation (NBIA), being unique with respect to the underlying disease genetics, the associated clinical presentation, and the suggested pathomechanism. Mutations in X-chromosomal WDR45 arise de novo; however, the dominant pattern of inheritance is unusual for an X-linked disorder and additional mechanisms such as X-inactivation or somatic mosaicism are likely to contribute to the phenotype that is indistinguishable between males and females...
2013: International Review of Neurobiology
D Rigaud, T Jiang, H Pennacchio, M Brémont, D Perrin
AIM: There are few published studies on the triggers of binge eating in anorexia nervosa of binge/purging subtype (BPAN), bulimia nervosa (BN) and binge eating disorder (BED). PATIENTS AND METHODS: We validated in 29 patients (10 BPAN, 10 BN and 9 BED) the perspicuity, the clarity and the intra- (doubles) and inter- (test-retest) reproducibility of a 24-item Start questionnaire on the triggers of binge eating. Then the Start questionnaire was administered to 176 patients (65 BPAN, 62 BN and 59 BED patients) being 27...
September 2014: L'Encéphale
Haitao Li, He Zhao, Chenming Liu, Yuping Li, Hongbin Cao, Yi Zhang
The catalyzed removal of bisphenol A (BPA) by a horseradish peroxidase (HRP) cathode in the presence of humic acid (HA) was investigated. At an optimal condition, the removal of BPA achieved 100% within 2min reaction. In the electro-enzymatic process, products were analyzed by high performance liquid chromatography with diode array detector (HPLC-DAD) and high performance size exclusion chromatography (HPSEC). HPLC-DAD results showed that BPA was oxidized into self-polymers and then self-polymers as important intermediate products decreased and disappeared...
August 2013: Chemosphere
Wan-Kyu Oh, Yoon Seon Jeong, Sojin Kim, Jyongsik Jang
Fluorescent boronate-modified polyacrylonitrile (BPAN) nanoparticles of 50 nm diameter were fabricated for use as a selective H(2)O(2) sensor. The fluorescence intensity changed and an emission peak shifted when BPAN nanoparticles selectively interacted with H(2)O(2), relative to other reactive oxygen species (ROS). The BPAN nanoparticles undergo photoinduced electron transfer (PET) between a Schiff base moiety and boronate, which enhances the fluorescence and makes the nanoparticles suitable for selective ROS recognition...
October 23, 2012: ACS Nano
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