Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.
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ABSTRACT:
SUBMITTER: Erro R
PROVIDER: S-EPMC6407056 | biostudies-literature | 2017 Jan-Feb
REPOSITORIES: biostudies-literature
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Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.
Erro Roberto R Balint Bettina B Kurian Manju A MA Brugger Florian F Picillo Marina M Barone Paolo P Bhatia Kailash P KP Pellecchia Maria Teresa MT
Movement disorders clinical practice 20160331 1
<i>PLA2G6</i>-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 <i>PLA2G6</i> mutations cause a phenotypic continu ...[more]
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