Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. (December 2020)

• Record Type: Journal Article
• Authors: Miranda, Marcelo; Harmuth, Florian; Bustamante, M. Leonor; Rossi, Malco; Sturm, Marc; Magnusson, Ólafur Th; Bauer, Peter; Klockgether, Thomas; Ramirez, Alfredo
• Is Part Of: Parkinsonism & related disorders. Volume 81(2020)
• Page Start: 45
• Page End: 47
• Publication Date: 2020-12
• Subjects: ATP13A2 -- Kufor-Rakeb syndrome -- Spastic paraplegia -- SPG78 -- Parkinsonism; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2020.10.004
• Languages: English
• ISSNs: 1353-8020

Abstract

Highlights: ATP13A2 mutations have been described in several apparently independent neurodegenerative movement disorders. Two patients with an intermediate phenotype combining parkinsonism and spastic paraplegia carry mutations in ATP13A2 . The term ATP13A2 -associated disorder may better define a genetic entity with heterogeneous and overlapping clinical features.