Pla2g6-Associated Dystonia Parkinsonism

Paisan-Ruiz, et al. [4] described 23 patients of PLAN-DP from 16 pedigrees [3,4], with youngest age of onset of 4 years and the oldest 37 years. Dystonia and parkinsonism were seen uniformly but neuropsychiatric and cognitive decline were seen invariably as initial presentation in adult-onset disease. Autonomic dysfunction, specifically urinary symptoms have been observed frequently as in this case and may be an important clue in diagnosis. Kapoor, et al. [5] in a review discussed the genetic analysis of PLA2G6 in 22 Indian families with phospholipase-2 associated neurodegeneration. This mutation was found in 12/22 (54.55%) families with INAD and ANAD which again suggest variable phenotypic expression of this disorder. Majority of families presented with INAD/ANAD and only one family presented with PLAN-DP, but was negative for this mutation.