|
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
| |
|
DOI
|
|
|
|
10.3233/JPD-181360
| |
|
Volume/pages
|
|
|
|
8
:3
(2018)
, p. 399-403
| |
|
ISI
|
|
|
|
000441665600004
| |
|
Pubmed ID
|
|
|
|
29966207
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|
Full text (open access)
|
|
|
|
| |
|