TWNK Gene Associated Perrault Syndrome Patient with Neurological Features
- Author:
Hyung Ki KIM
1
;
Jae Young BAE
;
Ji Won LIM
;
Jin Myoung SEOK
;
Jongkyu PARK
Author Information
- Publication Type:Case Report
- From:Journal of the Korean Neurological Association 2023;41(2):137-140
- CountryRepublic of Korea
- Language:Korean
- Abstract: Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.
