相关性神经退行性变：一例具有新型基因型变异的肌张力障碍-帕金森综合征表型的罕见病例报告。

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

作者信息

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

机构信息

Neurology Resident, Department of Neurology, Stanley Medical College, Chennai, Tamil Nadu, India, Corresponding Author.

Neurology Resident, Department of Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.

出版信息

J Assoc Physicians India. 2025 Feb;73(2):91-93. doi: 10.59556/japi.73.0836.

DOI:10.59556/japi.73.0836

PMID:39928007

Abstract

-associated neurodegeneration (PLAN) is a complex heterogenous group of neurodegenerative diseases that results from mutations in a gene known as . PLAN comprises three phenotypes with overlapping clinical and radiologic features: (1) Infantile neuroaxonal dystrophy (INAD), (2) Atypical neuroaxonal dystrophy (ANAD), and (3) -related dystonia-parkinsonism complex (PLAN-DPC). The onset of -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 gene mutation, c.757G>A, which has an allelic frequency of 0.001% in the gene database.

摘要

相关神经退行性变（PLAN）是一组复杂的异质性神经退行性疾病，由一个名为……的基因突变引起。PLAN包括三种具有重叠临床和放射学特征的表型：（1）婴儿神经轴索性营养不良（INAD），（2）非典型神经轴索性营养不良（ANAD），以及（3）……相关肌张力障碍-帕金森综合征复合体（PLAN-DPC）。……相关DPC在成年期发病，患者通常出生及发育正常。这些患者除了有认知衰退和步态不稳外，还表现出帕金森综合征的临床表现，其特征为运动迟缓、震颤伴肌张力障碍。在此，我们报告一例20岁女孩的PLAN-DPC表型病例。本病例报告突出了对……基因突变的一种新型变体c.757G>A的检测，该变体在基因数据库中的等位基因频率为0.001%。