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

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

Tremor and Other Hyperkinetic Movements

Volume 7 (2017): Issue 0

By: Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terrile and Tobias B. Haack

Open Access

|Aug 2017

Figures & Tables

Neuroimaging and Genetics of Referred Patient. (A–F) Patient brain magnetic resonance imaging panel displaying T2 weighted (A,D) and T1 weighted scans of consecutive axial slices at mesencephalic and basal ganglia level. Beta-propeller protein-associated neurodegeneration (BPAN) typical signal changes were found as symmetric cerebral peduncle including substantia nigra T2 hypointensity (A,F;*) combined with T1 hyperintensity (B) with a located circumscribed hypointense band in there (B and enlarged section C;<) as described to be a nearly pathognomonic magnetic resonance imaging feature of BPAN. In contrast, symmetric T2 hypointensity of the globus pallidus (D,F;→) was not accompanied by T1 signal changes (E). Global cerebral atrophy and caudate nucleus atrophy were observed. (G) Quantitative polymerase chain reaction of the WDR45 coding regions of the index patient and her parents showing a reduction of the gene dosage to approximately 50% of controls suggestive of a heterozygous deletion of the entire WDR45 gene.

DOI: https://doi.org/10.5334/tohm.360 | Journal eISSN: 2160-8288

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Language: English

Submitted on: Mar 31, 2017

Accepted on: Jul 6, 2017

Published on: Aug 8, 2017

Published by: Columbia University Libraries/Information Services

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

Keywords:

Static encephalopathy of childhood with neurodegeneration in adulthood,

beta-propeller protein-associated neurodegeneration,

© 2017 Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terrile, Tobias B. Haack, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.

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