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Adult-Onset PLA2G6-Associated Parkinsonism With Claval Hypertrophy: A Rare Radiological-Genetic Association
Biswamohan Mishra1, Om Mishra1, Manoj Kumar Nayak2
1Neurology, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.
This study details a rare case of adult-onset PLA2G6-associated neurodegeneration (PLAN) in a young man, presenting with rapid spastic parkinsonism and cognitive decline. The findings highlight a unique phenotype expanding the known spectrum of this genetic neurodegenerative disorder.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- PLA2G6-associated neurodegeneration (PLAN) typically presents in infancy or childhood.
- Adult-onset PLAN is rare, with limited understanding of its phenotypic variability.
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