OECBMU7D67OFUAFC5YWUTPDJKAKFRVMRABCDXVROG6HIG6CWGEMQC @article{nishioka2015,title={High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism},author={Nishioka, Kenya and Oyama, Genko and Yoshino, Hiroyo and Li, Yuanzhe and Matsushima, Takashi and Takeuchi, Chisen and Mochizuki, Yoko and Mori-Yoshimura, Madoka and Murata, Miho and Yamasita, Chikara and others},journal={Neurobiology of aging},volume={36},number={5},pages={2004--e9},year={2015},publisher={Elsevier}}
* References
* TODO References- **review 160 pcases !!!!!**https://www.tandfonline.com/doi/abs/10.1080/15548627.2021.1990671- **review+ 17 new cases (males) !!**https://www.sciencedirect.com/science/article/pii/S0887899420300849?casa_token=nlNoFpwcHtcAAAAA:e4DQEEyzIXopL8T0DHS6Fu5WsmQf3NuNqPbP7chy0OlmajGsgGV0gTJnMpO4-GpDDqbBwcneAZk- 40 patients, 2 males https://ng.neurology.org/content/4/2/e227- 1 mutation https://www.sciencedirect.com/science/article/abs/pii/S0022510X14008016- 1 case report 1 giirl https://publications.aap.org/pediatrics/article-abstract/136/3/e714/61183/Novel-WDR45-Mutation-and-Pathognomonic-BPAN- 7 female patients https://onlinelibrary.wiley.com/doi/full/10.1111/epi.13957- physio https://www.tandfonline.com/doi/abs/10.1080/15548627.2021.1924039- 5 young females https://www.sciencedirect.com/science/article/pii/S1769721217308790?casa_token=X6h39LuV_a8AAAAA:3VCywVz-NvsV-j7nlwfNQiHI7w3m3w7PcsPANxEUAOgmwTyGGy0kLxpsa9NtgFppUvtWyZ_ciYY- 1 case report female https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.858- 1 case report female https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.36635- 1 case report female https://www.sciencedirect.com/science/article/pii/S0387760417301432?casa_token=G1KM-amFLoAAAAAA:oYQOlK9nf0A_ZSTiNjJ3UVTMlsWKOYMkWYUz3qOSBYHnILk4WhEzzaT0FOIX6iamazynOVw7S10- 1 case fmale https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753/- https://www.sciencedirect.com/science/article/abs/pii/S1769721215001135 wdr45 + plr3a- 1 patient https://ng.neurology.org/content/3/1/e124.short- 1 case report https://synapse.koreamed.org/articles/1047886- mouse model https://link.springer.com/article/10.1007/s00335-021-09875-3- 2 twins https://link.springer.com/article/10.1007/s00415-017-8475-2- 1 femalehttps://www.sciencedirect.com/science/article/pii/S1769721219302253?casa_token=xRLAjZr8aEoAAAAA:JTv4npwgzR15uM21SWNpQ8m8asRbV7tlwyIqj4AR8xP3k8fjTC4n78nPCqEo01_sQL9nXDHmj2w- functional analysis https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38656- male https://onlinelibrary.wiley.com/doi/10.1111/cge.12849- 1 male https://pubmed.ncbi.nlm.nih.gov/28371320/
- [ ] [cite:@saitsu2013] mutations in WDR45 TODO data
- [ ] [cite:@Cong_2021] **review** of WDR45 : 93 variant, 84 women, 9 males with sch- [ ] WDR45 knockout mice -> model for BPAN- [ ] [cite:@Noda_2021] brain study in knockout mice- [ ] [cite:@Khoury_2019] 1 case of epileptic encephalopathy- [ ] [cite:@Ak_akaya_2019] 1 patient BPAN mosaicim c.873C>G; p.(Tyr291*)- [ ] [cite:@Liu_2018] 9 month-old c.977-1 C>T) **no iron on MRI**- [ ] [cite:@morisada2016] 1 woman : **21 years = MRI with atrophy only**, 39 years = MIR with classic anomalies !- [ ] [cite:@Lee_iron_2021] c.974-1G>A étude fibroblaste- [ ] [cite:@lee_autophagic_2021] c.977-1G>A effet autophage fibroblaste- [ ] [cite:@Sato2020] 1 case, classic BPAN but with lateral parkinsonism- [ ] [cite:@Tang2020] 5 unrelated children with de novo variant **normal MRI**17 patients (13 females 4 males)- [cite:@Hattingen_2017] 1 female- ?? 1 female, epilepsy : c.830＋2dup- [cite:@Xixis_2016] 1 case report ,, epileptic spasm- https://n.neurology.org/content/92/15_Supplement/P3.8-022.abstract mosais c830+1G>A mosaic- 1 case report https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0041-1739626- [cite:@Endo_2017] 1 case report, woman- [ ] [cite:@Umehara_2020] : 1 woman c.233C > A, p. Ser78*slowly progressing parkinsoni/dystonia in adulthood + epilepsy + ID + MRIhttps://doi.org/10.1111/ncn3.12427- 3 years old gil https://cpfd.cnki.com.cn/Article/CPFDTOTAL-JSYC201811001060.htm- 7 females https://www.sciencedirect.com/science/article/abs/pii/S0197458015000548- 1 male https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.13365- https://onlinelibrary.wiley.com/doi/10.1111/ene.14679- https://www.prd-journal.com/article/S1353-8020(18)30496-6/fulltext- 3 male with west https://www.nature.com/articles/jhg201627- 1 girl rett-like https://www.sciencedirect.com/science/article/pii/S0890850816300032?casa_token=ehws_TFdQiMAAAAA:zsj3IRGv0EqyuUxRso4zZpNH-p-ygXa5c9QSqb-E8HtcgkxWxZ-SndxH2SdrNxrd0A-EWC8xM2w- https://academic.oup.com/brain/article/141/10/3052/5087794?login=true- mouse model https://www.tandfonline.com/doi/full/10.1080/15548627.2019.1630224- 1 girl, rett-like https://www.nature.com/articles/jhg201418- 1 male https://www.nature.com/articles/ejhg2015159- 1 boy https://www.sciencedirect.com/science/article/pii/S1769721217302203?casa_token=t72fvriXW7kAAAAA:SDq-OjjKJAN3lopp-kU4fBypLYAP7sfJjv-PDMpVYRmIS5GGBHUMaywYVB_fHCdk2IlGrOYllak- [ ] [cite:@Ji_2021] show that WDR45 is required for neural autophagy- [ ] [cite:@Kano_2020] *revue* + 1 patiente- 1 case report- https://mediatum.ub.tum.de/1256878- https://europepmc.org/article/med/31665836- [ ] Gregory2019- [ ] [cite:@saitsu2013] nouveau phénotype WDR45 5 patients -> TODO data
- [ ] Gregory2019- [cite:@Lee_iron_2021] c.974-1G>A étude fibroblaste- [cite:@lee_autophagic_2021] c.977-1G>A effet autophage fibroblaste- [cite:@Ji_2021] autophagosome maturation into autolysosomes in neural cells- [cite:@Kano_2020] revue 1 patiente
}@article{Sato2020,doi = {10.5692/clinicalneurol.cn-001324},url = {https://doi.org/10.5692%2Fclinicalneurol.cn-001324},year = 2020,publisher = {Societas Neurologica Japonica},volume = {60},number = {5},pages = {317--320},author = {Ryota Sato and Michiaki Koga and Kazuhiro Iwama and Tsuyoshi Mizuguchi and Naomichi Matsumoto and Takashi Kanda},title = {A case of novel {\&}lt$\mathsemicolon$i{\&}gt$\mathsemicolon${WDR}45{\&}lt$\mathsemicolon$/i{\&}gt$\mathsemicolon$ mutation with beta-propeller protein-associated neurodegeneration ({BPAN}) presenting asymmetrical extrapyramidal signs},journal = {Rinsho Shinkeigaku}
@article{Tang2020,doi = {10.1002/mgg3.1499},url = {https://doi.org/10.1002%2Fmgg3.1499},year = 2020,month = {oct},publisher = {Wiley},volume = {8},number = {11},author = {Xiaojun Tang and Xiaoping Lan and Xiaozhen Song and Wuhen Xu and Yuanfeng Zhang and Hong Zhang and Shengnan Wu},title = {De novo variants in$\less$i$\greater${WDR}45$\less$/i$\greater$underlie beta-propeller protein-associated neurodegeneration in five independent families},journal = {Mol Genet Genomic Med}amp$\mathsemicolon$ Genomic Medicine}}@article{Cong_2021,doi = {10.1080/15548627.2021.1899669},url = {https://doi.org/10.1080%2F15548627.2021.1899669},year = 2021,month = {apr},publisher = {Informa {UK} Limited},volume = {17},number = {12},pages = {3908--3923},author = {Yingying Cong and Vincent So and Marina A. J. Tijssen and Dineke S. Verbeek and Fulvio Reggiori and Mario Mauthe},title = {$\less$i$\greater${WDR}45$\less$/i$\greater$, one gene associated with multiple neurodevelopmental disorders},journal = {Autophagy}}@article{Noda_2021,doi = {10.1038/s41598-021-02123-3},url = {https://doi.org/10.1038%2Fs41598-021-02123-3},year = 2021,month = {nov},publisher = {Springer Science and Business Media {LLC}},volume = {11},number = {1},author = {Mariko Noda and Hidenori Ito and Koh-ichi Nagata},title = {Physiological significance of {WDR}45, a responsible gene for $\upbeta$-propeller protein associated neurodegeneration ({BPAN}), in brain development},journal = {Sci Rep}}@article{Khoury_2019,doi = {10.1016/j.seizure.2019.08.002},url = {https://doi.org/10.1016%2Fj.seizure.2019.08.002},year = 2019,month = {oct},publisher = {Elsevier {BV}},volume = {71},pages = {245--246},author = {Jean Khoury and Prakash Kotagal and Ahsan N.V. Moosa},title = {Epileptic encephalopathy and brain iron accumulation due to {WDR}45 mutation},journal = {Seizure}}@article{Ak_akaya_2019,doi = {10.1007/s12017-018-08522-6},url = {https://doi.org/10.1007%2Fs12017-018-08522-6},year = 2019,month = {jan},publisher = {Springer Science and Business Media {LLC}},volume = {21},number = {1},pages = {54--59},author = {Nihan Hande Ak{\c{c}}akaya and Bar{\i}{\c{s}} Salman and Zeliha Görmez and Yelda Tarkan Argüden and Ay{\c{s}}e {\c{C}}{\i}rako{\u{g}}lu and Raif {\c{C}}akmur and Berril Dönmez {\c{C}}olako{\u{g}}lu and Seniha Hac{\i}hanefio{\u{g}}lu and U{\u{g}}ur Özbek and Zuhal Yap{\i}c{\i} and Sibel Aylin U{\u{g}}ur {\.{I}}{\c{s}}eri},title = {A Novel and Mosaic {WDR}45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis},journal = {Neuromol Med} Medicine}}@article{Liu_2018,doi = {10.4103/0366-6999.247216},url = {https://doi.org/10.4103%2F0366-6999.247216},year = 2018,month = {dec},publisher = {Ovid Technologies (Wolters Kluwer Health)},volume = {131},number = {24},pages = {2991--2992},author = {Wan-Ting Liu and Qian Chen and Zhi-Jie Gao and Xin-Na Ji and Ke-Ming Xu and Yan-Yan Cao},title = {A Novel {WDR}45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms},journal = {Chinese Medical Journal}}@article{morisada2016,title={A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood},author={Morisada, Naoya and Tsuneishi, Syuichi and Taguchi, Kazuhiro and Yagi, Ryuzaburo and Nishiyama, Masahiro and Toyoshima, Daisaku and Nakagawa, Taku and Takeshima, Yasuhiro and Takada, Satoshi and Iijima, Kazumoto},journal={No to Hattatsu= Brain and Development},volume={48},number={3},pages={209--212},year={2016}}@article{Umehara_2020,doi = {10.1111/ncn3.12427},url = {https://doi.org/10.1111%2Fncn3.12427},year = 2020,month = {jul},publisher = {Wiley},volume = {8},number = {5},pages = {332--334},author = {Fujio Umehara and Kazuhiro Iwama and Takeshi Mizuguchi and Naomichi Matsumoto},title = {Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/$\upbeta$-propeller protein-associated neurodegeneration},journal = {Neurology & Clinical Neurosc}}@article{Hattingen_2017,doi = {10.1007/s00062-017-0605-9},url = {https://doi.org/10.1007%2Fs00062-017-0605-9},year = 2017,month = {jun},publisher = {Springer Science and Business Media {LLC}},volume = {27},number = {4},pages = {481--483},author = {Elke Hattingen and Nikolaus Handke and Kirsten Cremer and Sabine Hoffjan and Guido Matthias Kukuk},title = {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})},journal = {Clin Neuroradiol}}@article{Xixis_2016,doi = {10.1684/epd.2016.0840},url = {https://doi.org/10.1684%2Fepd.2016.0840},year = 2016,month = {sep},publisher = {John Libbey Eurotext},volume = {18},number = {3},pages = {336--336},author = {Kathryn I Xixis and Mohamad A Mikati},title = {Epileptic spasms: a previously unreported manifestation of {WDR}45 gene mutation},journal = {Epileptic Disorders}}@article{Endo_2017,doi = {10.1111/ncn3.12132},url = {https://doi.org/10.1111%2Fncn3.12132},year = 2017,month = {jun},publisher = {Wiley},volume = {5},number = {4},pages = {131--133},author = {Hironobu Endo and Takeshi Uenaka and Wataru Satake and Yutaka Suzuki and Hisatsugu Tachibana and Norio Chihara and Takehiro Ueda and Kenji Sekiguchi and Taniguchi-Ikeda Mariko and Hisatomo Kowa and Fumio Kanda and Tatsushi Toda},title = {Japanese$\less$i$\greater$$\less$scp$\greater${WDR}$\less$/scp$\greater$45$\less$/i$\greater$de novo mutation diagnosed by exome analysis: A case report},journal = {Neurology & Clinical Neurosc}}