Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegenerationopen access
- Authors
- Park, Jong Kyu; Youn, Jinyoung; Cho, Jin Whan
- Issue Date
- Sep-2019
- Publisher
- SUNGKYUNKWAN UNIV SCH MEDICINE
- Keywords
- PLA2G6; Parkinson disease; Genetic analysis
- Citation
- Precision and Future Medicine, v.3, no.3, pp 135 - 138
- Pages
- 4
- Journal Title
- Precision and Future Medicine
- Volume
- 3
- Number
- 3
- Start Page
- 135
- End Page
- 138
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/4243
- DOI
- 10.23838/pfm.2019.00086
- ISSN
- 2508-7940
- Abstract
- Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in one family with the same genotype. A 28-year-old male presented with slowly progressive gait disturbance with spasticity. Onset occurred at 11 years. Interestingly, his younger brother, a 24-year-old male, presented with progressive Parkinsonism, which began at 22 years. He showed excellent response to levodopa but developed a fluctuating medication response and levodopa-induced dyskinesia 1. year after starting levodopa medication. He also demonstrated hyperreflexia, but no spasticity. Dopamine transporter imaging showed reduced uptake in the bilateral putamen. In whole-exome sequencing and Sanger sequencing, a homozygous pathogenic variant (p. R747W) in the PLA2G6 gene was detected in both cases. Despite different clinical features, both subjects had hyperreflexia during the examination and claval hypertrophy was shown on the brain magnetic resonance imaging.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - College of Medicine > Department of Neurology > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.