Universität zu Köln

Okur, Derya, Daimaguler, Hulya Sevcan, Danyeli, Ayca Ersen, Tekgul, Hasan, Wang, Haicui, Wunderlich, Gilbert, Cirak, Sebahattin and Yis, Uluc (2019). Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. Turk. J. Pediatr., 61 (6). S. 931 - 937. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

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Abstract

We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype. The complex neurological phenotypes associated with Prune mutations include microcephaly with brain abnormalities, spasticity, seizures, severe developmental delay and developmental regression. We used whole exome sequencing to identify the mutation and electrophysiological and muscle biopsy studies to evaluate the signs of spinal motor neuron involvement. The affected individuals carry homozygous PRUNE mutation (NM_021222.1, c.316G>A, p.D106N), showing the signs of spinal motor neuron involvement supported by electrophysiological and muscle biopsy findings and also persistent high creatine kinase levels. We confirm that individuals with PRUNE mutations may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype. The PRUNE gene should be considered in all the individuals with non-5q spinal muscular atrophy. High creatine kinase values may be a part of PRUNE disease spectrum.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Okur, Derya UNSPECIFIED UNSPECIFIED UNSPECIFIED Daimaguler, Hulya Sevcan UNSPECIFIED UNSPECIFIED UNSPECIFIED Danyeli, Ayca Ersen UNSPECIFIED UNSPECIFIED UNSPECIFIED Tekgul, Hasan UNSPECIFIED UNSPECIFIED UNSPECIFIED Wang, Haicui UNSPECIFIED UNSPECIFIED UNSPECIFIED Wunderlich, Gilbert UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED Yis, Uluc UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-128343
DOI:	10.24953/turkjped.2019.06.015
Journal or Publication Title:	Turk. J. Pediatr.
Volume:	61
Number:	6
Page Range:	S. 931 - 937
Date:	2019
Publisher:	TURKISH J PEDIATRICS
Place of Publication:	ANKARA
ISSN:	0041-4301
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/12834