MEDICAL REVIEWS AND RESEARCH

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE.

Epilepsia. 2017 Nov 24. doi: 10.1111/epi.13957. [Epub ahead of print]

PMID:

 

29171013

 

Select item 290821052.

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.

Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB.

Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017.

PMID:

 

29082105

 

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Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.

Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12.

PMID:

 

28711740

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Select item 286430354.

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).

Hattingen E, Handke N, Cremer K, Hoffjan S, Kukuk GM.

Clin Neuroradiol. 2017 Jun 22. doi: 10.1007/s00062-017-0605-9. [Epub ahead of print]

PMID:

 

28643035

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Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Morikawa M, Takano K, Motobayashi M, Shiba N, Kosho T, Nakazawa Y, Inaba Y.

Brain Dev. 2017 Oct;39(9):804-807. doi: 10.1016/j.braindev.2017.05.003. Epub 2017 May 24.

PMID:

 

28551038

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Select item 283612556.

Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins.

Araújo R, Garabal A, Baptista M, Carvalho S, Pinho C, de Sá J, Vasconcelos M.

J Neurol. 2017 May;264(5):1020-1022. doi: 10.1007/s00415-017-8475-2. Epub 2017 Mar 30. No abstract available.

PMID:

 

28361255

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Select item 282612647.

Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).

Ingrassia R, Memo M, Garavaglia B.

Front Genet. 2017 Feb 17;8:18. doi: 10.3389/fgene.2017.00018. eCollection 2017.

PMID:

 

28261264

 

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Increased thrombospondin-4 after nerve injury mediates disruption of intracellular calcium signaling in primary sensory neurons.

Guo Y, Zhang Z, Wu HE, Luo ZD, Hogan QH, Pan B.

Neuropharmacology. 2017 May 1;117:292-304. doi: 10.1016/j.neuropharm.2017.02.019. Epub 2017 Feb 22.

PMID:

 

28232180

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Select item 282116689.

Beta-Propeller Protein-Associated Neurodegeneration.

Gregory A, Kurian MA, Haack T, Hayflick SJ, Hogarth P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2017 Feb 16.

PMID:

 

28211668

 

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A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration.

Wynn DP, Pulst SM.

Neurol Genet. 2016 Dec 5;3(1):e124. eCollection 2017 Feb.

PMID:

 

27957548

 

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A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG.

Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Review.

PMID:

 

27487380

 

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[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

Morisada N, Tsuneishi S, Taguchi K, Yagi R, Nishiyama M, Toyoshima D, Nakagawa T, Takeshima Y, Takada S, Iijima K.

No To Hattatsu. 2016 May;48(3):209-12. Japanese.

PMID:

 

27349085

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Select item 2734907913.

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].

Muramatsu K.

No To Hattatsu. 2016 May;48(3):177-83. Review. Japanese. No abstract available.

PMID:

 

27349079

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Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC.

Eur J Hum Genet. 2016 Jul;24(7):1095. doi: 10.1038/ejhg.2015.274. No abstract available.

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27307113

 

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Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Yoganathan S, Arunachal G, Sudhakar SV, Rajaraman V, Thomas M, Danda S.

Neuropediatrics. 2016 Apr;47(2):123-7. doi: 10.1055/s-0035-1571189. Epub 2016 Feb 9.

PMID:

 

26859818

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WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL.

Mol Cell Probes. 2016 Feb;30(1):44-9. doi: 10.1016/j.mcp.2016.01.003. Epub 2016 Jan 11. Review.

PMID:

 

26790960

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Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA.

Epileptic Disord. 2015 Dec;17(4):467-72. doi: 10.1684/epd.2015.0784.

PMID:

 

26609730

 

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Select item 2657704118.

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC.

Eur J Hum Genet. 2016 Jul;24(7):1080-3. doi: 10.1038/ejhg.2015.242. Epub 2015 Nov 18.

PMID:

 

26577041

 

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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.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.

Am J Med Genet A. 2016 Feb;170A(2):322-8. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Review.

PMID:

 

26481852

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Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S.

Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

PMID:

 

26240209

 

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A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG.

Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Review.

PMID:

 

27487380

 

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Select item 270301462.

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N.

J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. Review.

PMID:

 

27030146

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Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Yoganathan S, Arunachal G, Sudhakar SV, Rajaraman V, Thomas M, Danda S.

Neuropediatrics. 2016 Apr;47(2):123-7. doi: 10.1055/s-0035-1571189. Epub 2016 Feb 9.

PMID:

 

26859818

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Select item 267156044.

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M.

Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29. Review.

PMID:

 

26715604

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Select item 266097305.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA.

Epileptic Disord. 2015 Dec;17(4):467-72. doi: 10.1684/epd.2015.0784.

PMID:

 

26609730

 

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Select item 261230529.

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy.

Paudel R, Li A, Wiethoff S, Bandopadhyay R, Bhatia K, de Silva R, Houlden H, Holton JL.

Acta Neuropathol Commun. 2015 Jun 30;3:39. doi: 10.1186/s40478-015-0221-3.

PMID:

 

26123052

 

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High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.

Nishioka K, Oyama G, Yoshino H, Li Y, Matsushima T, Takeuchi C, Mochizuki Y, Mori-Yoshimura M, Murata M, Yamasita C, Nakamura N, Konishi Y, Ohi K, Ichikawa K, Terada T, Obi T, Funayama M, Saiki S, Hattori N.

Neurobiol Aging. 2015 May;36(5):2004.e9-2004.e15. doi: 10.1016/j.neurobiolaging.2015.01.020. Epub 2015 Jan 30.

PMID:

 

25744623

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Select item 2530122711.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Van Goethem G, Livingston JH, Warren D, Oojageer AJ, Rice GI, Crow YJ.

Pediatr Neurol. 2014 Dec;51(6):843-5. doi: 10.1016/j.pediatrneurol.2014.08.017. Epub 2014 Sep 6.

PMID:

 

25301227

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Select item 2526306112.

Early manifestations of BPAN in a pediatric patient.

Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I.

Am J Med Genet A. 2014 Dec;164A(12):3095-9. doi: 10.1002/ajmg.a.36779. Epub 2014 Sep 26.

PMID:

 

25263061

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Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Rathore GS, Schaaf CP, Stocco AJ.

Mov Disord. 2014 Apr;29(4):574-5. doi: 10.1002/mds.25868. Epub 2014 Mar 7. No abstract available.

PMID:

 

24610255

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Select item 2436817614.

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP.

Parkinsonism Relat Disord. 2014 Mar;20(3):332-6. doi: 10.1016/j.parkreldis.2013.11.019. Epub 2013 Dec 10.

PMID:

 

24368176

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Select item 2420943515.

BPAN: the only X-linked dominant NBIA disorder.

Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ.

Int Rev Neurobiol. 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. Review.

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24209435

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Select item 2368712316.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.

Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.

PMID:

 

23687123

 

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Select item 2317682017.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ.

Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.

PMID:

 

23176820

 

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