PLA2G6-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant.

Q3 Medicine

The Journal of the Association of Physicians of India Pub Date : 2025-02-01 DOI:10.59556/japi.73.0836

Surya Prakash, D Srilekha, P S Naga Srinivas, Lakshmanan Sankaranarayanan, P R Sowmini, Sakthi Velayudham, Malcolm Jeyaraj, V Kannan, R Viveka Saravanan, Mugundhan Krishnan

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引用次数: 0

Abstract

PLA2G6-associated neurodegeneration (PLAN) is a complex heterogenous group of neurodegenerative diseases that results from mutations in a gene known as PLA2G6. PLAN comprises three phenotypes with overlapping clinical and radiologic features: (1) Infantile neuroaxonal dystrophy (INAD), (2) Atypical neuroaxonal dystrophy (ANAD), and (3) PLA2G6-related dystonia-parkinsonism complex (PLAN-DPC). The onset of PLA2G6-related DPC occurs in adulthood, and patients often have normal birth and development. These patients show clinical manifestations of Parkinsonian syndrome, characterized by bradykinesia and tremors with dystonia, in addition to cognitive regression as well as gait instability. Here, we report a case of PLAN-DPC phenotype in a 20-year-old girl. This case report highlights the detection of a novel variant of PLA2G6 gene mutation, c.757G>A, which has an allelic frequency of 0.001% in the gene database.

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pla2g6相关的神经退行性变：一例罕见的肌张力障碍-帕金森病表型与一个新的基因型变异。

PLA2G6相关神经变性（PLAN）是一种复杂的异质性神经退行性疾病，由PLA2G6基因突变引起。PLAN包括三种具有重叠临床和影像学特征的表型：(1)婴儿神经轴突营养不良（INAD），(2)非典型神经轴突营养不良（ANAD），以及(3)pla2g6相关的肌张力障碍-帕金森综合征（PLAN- dpc）。pla2g6相关的DPC发病于成年期，患者通常出生发育正常。这些患者的临床表现为帕金森综合征，以运动迟缓和震颤伴肌张力障碍为特征，此外还有认知衰退和步态不稳定。在这里，我们报告一个20岁女孩的PLAN-DPC表型病例。本病例报告强调在基因数据库中检测到一种新的PLA2G6基因突变c.757G> a，其等位基因频率为0.001%。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

The Journal of the Association of Physicians of India Medicine-Medicine (all)

CiteScore

0.80

自引率

0.00%

发文量

509