Beta-propeller protein-associated neurodegeneration: A clinical update with a case report

[Display omitted] •BPAN is a phenotypically distinct, X-linked form of NBIA caused by an error in autophagy due to a WDR45 gene mutation.•Patients with BPAN present with a global developmental delay that remains relatively static until adolescence/young adulthood.•A unique frameshift mutation in the...

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Published in:eNeurologicalSci 2023-06, Vol.31, p.100469-100469, Article 100469
Main Authors: Mansour, Moustafa A., Moawad, Yehia, Ali, Hassan
Format: Article
Language:English
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Summary:[Display omitted] •BPAN is a phenotypically distinct, X-linked form of NBIA caused by an error in autophagy due to a WDR45 gene mutation.•Patients with BPAN present with a global developmental delay that remains relatively static until adolescence/young adulthood.•A unique frameshift mutation in the WDR45 gene has been identified in our case, a mutation previously only reported in a single BPAN case.•Unlike the first case published in 2013, our patient had no dysmorphic Rett-like features, and her mutation was confirmed as a de novo mutation.•Some previous studies reported a correlation between the detected WDR45 mutations and responsiveness to L-Dopa, but with no available data regarding the variant NM_007075.3: c.186delT, p.L63Wfs*19, making our study the first to report such a finding.
ISSN:2405-6502
2405-6502
DOI:10.1016/j.ensci.2023.100469