Universität zu Köln

Belohlavkova, Anezka ORCID: 0000-0001-8462-6892, Sterbova, Katalin, Betzler, Cornelia, Burkhard, Stuve, Panzer, Axel, Wolff, Markus, Lassuthova, Petra ORCID: 0000-0003-1726-5868, Vlckova, Marketa, Kyncl, Martin, Benova, Barbora ORCID: 0000-0001-8448-2833, Jahodova, Alena, Kudr, Martin, Goerg, Maria, Dusek, Petr, Seeman, Pavel, Kluger, Gerhard and Krsek, Pavel (2020). Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration. Eur. J. Paediatr. Neurol., 28. S. 81 - 89. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

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Abstract

Background: Neurodegeneration with brain iron accumulation constitutes a group of rare progressive movement disorders sharing intellectual disability and neuroimaging findings as common denominators. Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. We aimed to describe in detail the phenotype of BPAN with a special focus on iron metabolism. Material and methods: We present a cohort of paediatric patients with pathogenic variants of WD-Repeat Domain 45 gene (WDR45). The diagnosis was established by targeted panel sequencing of genes associated with epileptic encephalopathies (n = 9) or by Sanger sequencing of WDR45 (n = 1). Data on clinical characteristics, molecular-genetic findings and other performed investigations were gathered from all participating centres. Markers of iron metabolism were analysed in 6 patients. Results: Ten children (3 males, 7 females, median age 8.4 years) from five centres (Prague, Berlin, Vogtareuth, Tubingen and Cologne) were enrolled in the study. All patients manifested first symptoms (e.g. epilepsy, developmental delay) between 2 and 31 months (median 16 months). Seven patients were seizure-free (6 on antiepileptic medication, one drug-free) at the time of data collection. Neurological findings were non-specific with deep tendon hyperreflexia (n = 4) and orofacial dystonia (n = 3) being the most common. Soluble transferrin receptor/log ferritin ratio was elevated in 5/6 examined subjects; other parameters of iron metabolism were normal. Conclusion: Severity of epilepsy often gradually decreases in BPAN patients. Elevation of soluble transferrin receptor/log ferritin ratio could be another biochemical marker of the disease and should be explored by further studies. (c) 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Belohlavkova, Anezka UNSPECIFIED orcid.org/0000-0001-8462-6892 UNSPECIFIED Sterbova, Katalin UNSPECIFIED UNSPECIFIED UNSPECIFIED Betzler, Cornelia UNSPECIFIED UNSPECIFIED UNSPECIFIED Burkhard, Stuve UNSPECIFIED UNSPECIFIED UNSPECIFIED Panzer, Axel UNSPECIFIED UNSPECIFIED UNSPECIFIED Wolff, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Lassuthova, Petra UNSPECIFIED orcid.org/0000-0003-1726-5868 UNSPECIFIED Vlckova, Marketa UNSPECIFIED UNSPECIFIED UNSPECIFIED Kyncl, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Benova, Barbora UNSPECIFIED orcid.org/0000-0001-8448-2833 UNSPECIFIED Jahodova, Alena UNSPECIFIED UNSPECIFIED UNSPECIFIED Kudr, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Goerg, Maria UNSPECIFIED UNSPECIFIED UNSPECIFIED Dusek, Petr UNSPECIFIED UNSPECIFIED UNSPECIFIED Seeman, Pavel UNSPECIFIED UNSPECIFIED UNSPECIFIED Kluger, Gerhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Krsek, Pavel UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-320312
DOI:	10.1016/j.ejpn.2020.07.010
Journal or Publication Title:	Eur. J. Paediatr. Neurol.
Volume:	28
Page Range:	S. 81 - 89
Date:	2020
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1532-2130
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language EXOME SEQUENCING REVEALS; WDR45 MUTATIONS; CHILDHOOD; DIAGNOSIS Multiple languages Clinical Neurology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32031