keyword
Keywords BPAN(beta-propeller protein-as...

BPAN(beta-propeller protein-associated neurodegeneration)

https://read.qxmd.com/read/33037762/de-novo-variants-in-wdr45-underlie-beta-propeller-protein-associated-neurodegeneration-in-five-independent-families
#1
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu
BACKGROUND: Beta-propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in WD repeat domain 45(WDR45), which is characterized by iron accumulation in the basal ganglia, however, it may be atypical in early brain MRI. METHODS: Whole exome sequencing was performed for five parents-offspring trios and phenotype-driven data analyses were conducted...
November 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/32811771/clinical-features-and-blood-iron-metabolism-markers-in-children-with-beta-propeller-protein-associated-neurodegeneration
#2
Anezka Belohlavkova, Katalin Sterbova, Cornelia Betzler, Stuve Burkhard, Axel Panzer, Markus Wolff, Petra Lassuthova, Marketa Vlckova, Martin Kyncl, Barbora Benova, Alena Jahodova, Martin Kudr, Maria Goerg, Petr Dusek, Pavel Seeman, Gerhard Kluger, Pavel Krsek
BACKGROUND: Neurodegeneration with brain iron accumulation constitutes a group of rare progressive movement disorders sharing intellectual disability and neuroimaging findings as common denominators. Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. We aimed to describe in detail the phenotype of BPAN with a special focus on iron metabolism. MATERIAL AND METHODS: We present a cohort of paediatric patients with pathogenic variants of WD-Repeat Domain 45 gene (WDR45)...
September 2020: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/32682237/high-amplitude-fast-activity-in-eeg-an-early-diagnostic-marker-in-children-with-beta-propeller-protein-associated-neurodegeneration-bpan
#3
Hiroyuki Kidokoro, Hiroyuki Yamamoto, Tetsuo Kubota, Mitsuo Motobayashi, Yusaku Miyamoto, Tomohiko Nakata, Kyoko Takano, Naoko Shiba, Yu Okai, Masaharu Tanaka, Yoko Sakaguchi, Yuki Maki, Masahiro Kawaguchi, Takeshi Suzuki, Kazuhiro Muramatsu, Jun Natsume
OBJECTIVE: The early diagnosis of beta-propeller protein-associated neurodegeneration (BPAN) before distinct brain magnetic resonance imaging (MRI) findings of iron deposition occur remains challenging. This study examined whether children with BPAN have characteristic high-amplitude (>50 μV) fast activity (HAFA) on electroencephalography (EEG). METHODS: We conducted a retrospective analysis of EEG performed during childhood in five patients with BPAN. We also examined 143 EEGs from 59 patients with different etiologies, including epilepsy (n = 33), acute encephalopathy (n = 6), neurodevelopmental disorders (n = 5), non-epileptic events (n = 4), and others (n = 11)...
September 2020: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://read.qxmd.com/read/32335071/serial-mri-alterations-of-pediatric-patients-with-beta-propeller-protein-associated-neurodegeneration-bpan
#4
Yukio Kimura, Noriko Sato, Akihiko Ishiyama, Yoko Shigemoto, Fumio Suzuki, Hiroyuki Fujii, Norihide Maikusa, Hiroshi Matsuda, Kenya Nishioka, Nobutaka Hattori, Masayuki Sasaki
BACKGROUND AND PURPOSE: Beta-propeller protein-associated neurodegeneration (BPAN) is one subtype of neurodegeneration with brain iron accumulation. It is difficult to diagnose BPAN due to the non-specificity of their clinical findings and neuroimaging in early childhood. We experienced four pediatric patients with serial brain MRI and evaluated the alteration of the findings through their course. METHODS: We retrospectively reviewed the clinical findings and 21 MRI findings of the four patients with genetically confirmed pediatric BPAN...
April 23, 2020: Journal of Neuroradiology. Journal de Neuroradiologie
https://read.qxmd.com/read/32307390/-a-case-of-novel-wdr45-mutation-with-beta-propeller-protein-associated-neurodegeneration-bpan-presenting-asymmetrical-extrapyramidal-signs
#5
Ryota Sato, Michiaki Koga, Kazuhiro Iwama, Tsuyoshi Mizuguchi, Naomichi Matsumoto, Takashi Kanda
Beta-propeller protein-associated neurodegeneration (BPAN) is categorized in Neurodegeneration with brain iron accumulation. The clinical feature of BPAN is global developmental delay in early childhood, followed rapid progression of cognitive disfunction and parkinsonism in adulthood. This case was pointed out intellectual disability at the age of 9, followed left dominant progressive parkinsonism from the age of 31. Brain MRI showed the T1 -weighted signal hyperintensity of the substantia nigra with a central band of hypointensity and the T2 star weighted image hypointensity of substantia nigra and globus pallidus presenting dominant at right side...
April 18, 2020: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/31632858/beta-propeller-protein-associated-neurodegeneration-bpan-detected-in-a-child-with-epileptic-spasms
#6
Guneet Kaleka, M Eileen McCormick, Anant Krishnan
This report discusses a 13-year-old girl diagnosed with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is an X-linked neurodegeneration disorder associated with a mutation in the WDR45 gene. It typically presents in childhood with encephalopathy, developmental delay, and seizures. Following an initial static phase, these symptoms then progress to dementia, dystonia, and parkinsonism in early adulthood. Our child initially presented with epileptic spasms, global developmental delay, speech delay, hypotonia, spasticity, scoliosis, and gait disturbance...
August 16, 2019: Curēus
https://read.qxmd.com/read/31525124/is-wdr45-the-missing-link-for-er-stress-induced-autophagy-in-beta-propeller-associated-neurodegeneration
#7
Bertrand Mollereau, Ludivine Walter
Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene WDR45/WIPI4 . In human, BPAN is associated with static encephalopathy in childhood and neurodegeneration in adulthood (SENDA). It has been proposed that WDR45 mutations cause neurodegeneration due to defective autophagy. Whether these mutations cause a global attenuation or a defect in a subset of autophagy functions is unknown. Based on a recent study showing that wdr45 knockout mice exhibit defective autophagy associated with an increased ER stress, we propose that ER-mediated autophagy, a selective activation of autophagy, is defective in mouse and cellular models of BPAN...
December 2019: Autophagy
https://read.qxmd.com/read/31505688/childhood-dystonia-parkinsonism-following-infantile-spasms-clinical-clue-to-diagnosis-in-early-beta-propeller-protein-associated-neurodegeneration
#8
Frauke Hornemann, Diana Le Duc, Christian Roth, Roland Pfäffle, Dagmar Huhle, Andreas Merkenschlager
INTRODUCTION: Beta-propeller protein-associated neurodegeneration (BPAN) is a very rare, X-linked dominant (XLD) inherited member of the neurodegeneration with brain iron accumulation (NBIA) disease family. CASE REPORT: We present a female case of BPAN with infantile spasms in the first year, Rett-like symptomatology, focal epilepsy, and loss of motor skills in childhood. Menarche occurred at the age of 9, after precocious pubarche and puberty.Dystonia-parkinsonism as extrapyramidal sign at the age of 10 years resulted in radiological and genetic work-up...
February 2020: Neuropediatrics
https://read.qxmd.com/read/31332960/functional-evidence-for-a-de-novo-mutation-in-wdr45-leading-to-bpan-in-a-chinese-girl
#9
Qiuhong Xiong, Wenjing Li, Ping Li, Zhonghua Zhao, Changxin Wu, Han Xiao
BACKGROUND: Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a novel de novo mutation (c.1040_1041del, p.Glu347GlyfsTer7) in WDR45 (NM_007075) in a 3-year-old Chinese girl with BPAN. METHODS: The protein structure was constructed using SWISS-MODEL and the isoelectric point (pI) was predicted by the online pI/Mw tool at ExPASy...
July 22, 2019: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/31293896/single-center-experience-with-beta-propeller-protein-associated-neurodegeneration-bpan-expanding-the-phenotypic-spectrum
#10
Marisa Chard, Juan Pablo Appendino, Luis E Bello-Espinosa, Colleen Curtis, Jong M Rho, Xing-Chang Wei, Walla Al-Hertani
Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) that presents with childhood developmental delay (especially speech delay), occasionally associated with epileptic encephalopathy, autism, or Rett-like syndrome. The majority of children described to date have been severely affected, with little to no expressive speech function, severe developmental delay, and cognitive impairment. Herein, five additional patients with BPAN identified in the same center in Canada are described, four with the typical severe phenotype and one with a milder phenotype...
September 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/31238825/role-of-wdr45b-in-maintaining-neural-autophagy-and-cognitive-function
#11
Cuicui Ji, Hongyu Zhao, Dongfang Li, Huayu Sun, Junfeng Hao, Ruiguo Chen, Xiaoqun Wang, Hong Zhang, Yan G Zhao
Macroautophagy/autophagy functions as a quality control mechanism by degrading misfolded proteins and damaged organelles and plays an essential role in maintaining neural homeostasis. The phosphoinositide phosphatidylinositol-3-phosphate (PtdIns3P) effector Atg18 is essential for autophagosome formation in yeast. Mammalian cells contain four Atg18 homologs, belonging to two subclasses, WIPI1 (WD repeat domain, phosphoinositide interacting 1), WIPI2 and WDR45B/WIPI3 (WD repeat domain 45B), WDR45/WIPI4. The role of Wdr45b in autophagy and in neural homeostasis, however, remains unknown...
June 25, 2019: Autophagy
https://read.qxmd.com/read/30612247/a-novel-and-mosaic-wdr45-nonsense-variant-causes-beta-propeller-protein-associated-neurodegeneration-identified-through-whole-exome-sequencing-and-x-chromosome-heterozygosity-analysis
#12
Nihan Hande Akçakaya, Barış Salman, Zeliha Görmez, Yelda Tarkan Argüden, Ayşe Çırakoğlu, Raif Çakmur, Berril Dönmez Çolakoğlu, Seniha Hacıhanefioğlu, Uğur Özbek, Zuhal Yapıcı, Sibel Aylin Uğur İşeri
Beta-propeller protein-associated neurodegeneration (BPAN) is an X-linked rare dominant disorder of autophagy. The role of WDR45 has been implicated in BPAN almost exclusively in females possibly due to male lethality. Characterization of distinctive clinical manifestations and potentially the complex genetic determinants in rare male patients remain crucial for deciphering BPAN and other X-linked dominant diseases. We performed whole exome sequencing (WES) followed by segregation analysis and identified a novel nonsense and mosaic variant in WDR45, namely NM_007075...
January 5, 2019: Neuromolecular Medicine
https://read.qxmd.com/read/30341275/ischemic-fasciitis-of-the-left-buttock-in-a-40-year-old-woman-with-beta-propeller-protein-associated-neurodegeneration-bpan
#13
Akio Sakamoto, Ryuzo Arai, Takeshi Okamoto, Yosuke Yamada, Hodaka Yamakado, Shuichi Matsuda
BACKGROUND Ischemic fasciitis is a rare condition that occurs in debilitated and immobilized individuals, usually overlying bony protuberances. Because the histology shows a pseudosarcomatous proliferation of atypical fibroblasts, and because the lesion can increase in size, ischemic fasciitis can mimic sarcoma. Beta-propeller protein-associated neurodegeneration (BPAN) arises in infancy and is due to mutations in the WDR45 gene on the X chromosome. BPAN results in progressive symptoms of dystonia, Parkinsonism, and dementia once the individual reaches adolescence or early adulthood, and is usually fatal before old age...
October 20, 2018: American Journal of Case Reports
https://read.qxmd.com/read/29681108/functional-mrna-analysis-reveals-aberrant-splicing-caused-by-novel-intronic-mutation-in-wdr45-in-nbia-patient
#14
Josh Willoughby, Celia Duff-Farrier, Archana Desurkar, Manju Kurian, Ashok Raghavan, Meena Balasubramanian
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood...
May 2018: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/29445477/beta-propeller-protein-associated-neurodegeneration-a-case-report-and-review-of-the-literature
#15
Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis
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.
February 2018: Clinical Case Reports
https://read.qxmd.com/read/29171013/severe-infantile-onset-developmental-and-epileptic-encephalopathy-caused-by-mutations-in-autophagy-gene-wdr45
#16
Gemma L Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C Mefford, Ingrid E Scheffer
Heterozygous de novo variants in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN). BPAN is characterized by adolescent onset dementia and dystonia; 66% patients have seizures. We asked whether WDR45 was associated with developmental and epileptic encephalopathy (DEE). We performed next generation sequencing of WDR45 in 655 patients with developmental and epileptic encephalopathies. We identified 3/655 patients with DEE plus 4 additional patients with de novo WDR45 pathogenic variants (6 truncations, 1 missense); all were female...
January 2018: Epilepsia
https://read.qxmd.com/read/29082105/a-case-of-beta-propeller-protein-associated-neurodegeneration-due-to-a-heterozygous-deletion-of-wdr45
#17
Andreas Hermann, Hagen H Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terrile, Tobias B Haack
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-associated neurodegeneration (BPAN). CASE REPORT: Here we describe a female patient suffering from a classical BPAN phenotype due to a novel heterozygous deletion of WDR45 ...
2017: Tremor and Other Hyperkinetic Movements
https://read.qxmd.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
#18
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...
October 2017: European Journal of Medical Genetics
https://read.qxmd.com/read/28643035/clinical-and-imaging-presentation-of-a-patient-with-beta-propeller-protein-associated-neurodegeneration-a-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#19
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...
December 2017: Clinical Neuroradiology
https://read.qxmd.com/read/28551038/clinical-features-of-a-female-with-wdr45-mutation-complicated-by-infantile-spasms-a-case-report-and-literature-review
#20
REVIEW
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...
October 2017: Brain & Development
keyword
keyword
26245
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"