Published in:
Movement Disorders Clinical Practice, 4 (2017) 1, Seite 125-128
Language:
English
DOI:
10.1002/mdc3.12319
ISSN:
2330-1619
Origination:
Footnote:
Description:
AbstractView Supplementary Video 1PLA2G6‐associated neurodegeneration comprises a heterogeneous spectrum of age‐related phenotypes, with three forms classically recognized, including infantile neuroaxonal dystrophy (INAD) with onset in infancy, atypical neuroaxonal dystrophy (atypical NAD) with onset in childhood, and dystonia‐parkinsonism (PARK14) with onset in early adulthood. We describe 3 cases that challenge this view, discuss the related literature, and suggest that PLA2G6 mutations cause a phenotypic continuum rather than three discrete phenotypes, further ensuing clinical implications.