早期共济失调与后续帕金森症：PLA2G6突变导致的是一种连续状态而非三种离散表型。
Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.
作者信息
Erro Roberto, Balint Bettina, Kurian Manju A, Brugger Florian, Picillo Marina, Barone Paolo, Bhatia Kailash P, Pellecchia Maria Teresa
机构信息
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom.
Dipartimento di Scienze Neurologiche e del Movimento Università di Verona Verona Italy.
出版信息
Mov Disord Clin Pract. 2016 Mar 31;4(1):125-128. doi: 10.1002/mdc3.12319. eCollection 2017 Jan-Feb.
Abstract
-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 mutations cause a phenotypic continuum rather than three discrete phenotypes, further ensuing clinical implications.
摘要
相关神经退行性变包括一系列与年龄相关的异质性表型，传统上公认有三种形式，包括婴儿期起病的婴儿型神经轴索性营养不良（INAD）、儿童期起病的非典型神经轴索性营养不良（非典型NAD）以及成年早期起病的肌张力障碍-帕金森综合征（PARK14）。我们描述了3例对这一观点提出挑战的病例，讨论了相关文献，并提出突变导致的是一种表型连续体而非三种离散的表型，进而探讨了其临床意义。
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