Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Catherine Yang + 892 word(s) 892 2020-12-15 07:17:31

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. Beta-Propeller Protein-Associated Neurodegeneration. Encyclopedia. Available online: https://encyclopedia.pub/entry/4971 (accessed on 21 September 2026).
Yang C. Beta-Propeller Protein-Associated Neurodegeneration. Encyclopedia. Available at: https://encyclopedia.pub/entry/4971. Accessed September 21, 2026.
Yang, Catherine. "Beta-Propeller Protein-Associated Neurodegeneration" Encyclopedia, https://encyclopedia.pub/entry/4971 (accessed September 21, 2026).
Yang, C. (2020, December 24). Beta-Propeller Protein-Associated Neurodegeneration. In Encyclopedia. https://encyclopedia.pub/entry/4971
Yang, Catherine. "Beta-Propeller Protein-Associated Neurodegeneration." Encyclopedia. Web. 24 December, 2020.
Beta-Propeller Protein-Associated Neurodegeneration
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/beta-propeller-protein-associated-neurodegeneration

Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease.

genetic conditions

References

  1. Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF,Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb;139(Pt 2):317-37. doi:10.1093/brain/awv371.
  2. Gregory A, Kurian MA, Haack T, Hayflick SJ, Hogarth P. Beta-PropellerProtein-Associated Neurodegeneration. 2017 Feb 16. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK424403/
  3. Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ. BPAN: the onlyX-linked dominant NBIA disorder. Int Rev Neurobiol. 2013;110:85-90. doi:10.1016/B978-0-12-410502-7.00005-3. Review.
  4. 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, MeyerE, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J,Meitinger T, Prokisch H, Hogarth P. β-Propeller protein-associatedneurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095.
  5. 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. High frequency of beta-propellerprotein-associated neurodegeneration (BPAN) among patients with intellectualdisability and young-onset parkinsonism. Neurobiol Aging. 2015May;36(5):2004.e9-2004.e15. doi: 10.1016/j.neurobiolaging.2015.01.020.
  6. Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-YoshidaE, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y,Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N. De novo mutations in the autophagy gene WDR45 cause static encephalopathy ofchildhood with neurodegeneration in adulthood. Nat Genet. 2013 Apr;45(4):445-9,449e1. doi: 10.1038/ng.2562.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 959
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback