Publication
Title
Kufor-Rakeb Syndrome/PARK9 : one novel and one possible recurring ashkenazi ATP13A2 mutation
Author
Abstract
Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2:c. 217_218insG and c. 3057delC. Allele frequency of the c. 3057delC mutation was about 100 times higher in Ashkenazi controls in our study (1/190 = 0.00526) and in the Genome Aggregation Database, (GnomAD, 27/10132 = 0.002665) versus non-Ashkenazi controls worldwide in GnomAD (9/264566 = 0.000034018, p < 0.0001). The c.217 218insG mutation is novel and not found in controls or GnomAD. The c.3057delC mutation should be included in the genetic workup of Ashkenazi YOPD patients.
Language
English
Source (journal)
Journal of Parkinson's Disease
Publication
2018
ISSN
1877-7171
Volume/pages
8 :3 (2018) , p. 399-403
ISI
000441665600004
Pubmed ID
29966207
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 07.09.2018
Last edited 20.10.2021
To cite this reference