| Title |
Case report of an early-onset dystonia-parkinsonism associated with a novel PLA2G6 gene variant |
| Authors |
Galinytė, Greta ; Baranauskienė, Gintarė ; Burnytė, Birutė ; Kaladytė Lokominienė, Rūta ; Tutlienė, Neringa |
| DOI |
10.1159/crn/abyag010 |
| Full Text |
|
| Is Part of |
Case reports in neurology.. Basel : S. Karger AG.. 2026, Early Access, p. [1-21].. eISSN 1662-680X |
| Keywords [eng] |
early-onset dystonia ; parkinsonism ; PLA2G6 gene |
| Abstract [eng] |
Introduction. Monogenic forms account for a minority of Parkinson's disease cases but offer valuable insights into disease mechanisms. PARK14 is an atypical autosomal recessive dystonia-parkinsonism caused by mutations in the PLA2G6 gene. The disorder typically presents in early adulthood with a wide range of symptoms such as dystonia, initial responsiveness to levodopa, cognitive impairment and levodopa-induced dyskinesias. The phenotypic spectrum also includes signs like cerebral or cerebellar atrophy or iron accumulation in the brain. Case Presentation. We present a case of adultonset dystonia-parkinsonism in a patient carrying a novel heterozygous PLA2G6 (NM_003560.4) variant c.1805A>G (p.Tyr602Cys). The patient exhibited levodopa-responsive parkinsonism, severe dyskinesias, dystonia, cerebellar atrophy and underwent subthalamic nucleus deep brain stimulation surgery after 4 years of the initial symptoms. In contrast to typical PARK14 cases, cognitive function remained preserved after 5 years of disease duration (MoCA 29/30). Conclusion. Although the phenotype of the patient aligns with PARK14 diagnosis, a causal role for this heterozygous variant cannot be established from the present data. PARK14 is classically an autosomal recessive disorder and a single monoallelic variant is not sufficient to explain the phenotype – an undetected second variant, an alternative genetic cause or a coincidental finding cannot be excluded. Moreover, additional data is needed to understand whether monoallelic PLA2G6 variants could be a causative factor for PARK14 and act dominantly, or if single gene variants only increase the risk of Parkinson’s disease in combination with other genetic or environmental factors. This case is therefore presented as a detailed clinical observation in a patient with a novel PLA2G6 variant rather than as confirmation that the variant is responsible for the patient’s PARK14-like presentation. |
| Published |
Basel : S. Karger AG |
| Type |
Journal article |
| Language |
English |
| Publication date |
2026 |
| CC license |
|
