Neuropathologic Characterisation of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) With Coexisting α-Synuclein and Tau Pathology in a Young Adult.

IF 3.4 2区医学 Q1 CLINICAL NEUROLOGY

Neuropathology and Applied Neurobiology Pub Date : 2026-04-01 DOI:10.1111/nan.70074

Laura Gomez-Isaza, Javier Redding-Ochoa, Maria Luongo, Russell Alexander, Anindita Ray, Sonja W Scholz, Juan C Troncoso

引用次数: 0

Abstract

Mitochondrial membrane protein associated neurodegeneration (MPAN) is a rare and genetically defined subtype of neurodegeneration with brain iron accumulation (NBIA) caused by pathogenic variants in C19orf12. We report an autopsy case in a young adult with a homozygous C19orf12 missense variant. Neuropathological examination demonstrated iron deposition within the globus pallidus, widespread neuroaxonal spheroids, and extensive α-synuclein pathology of the brainstem, limbic and neocortical regions. In addition, we identified focal tau pathology in hippocampus, and entorhinal cortex.

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α-突触核蛋白和Tau蛋白共存的年轻成人线粒体膜蛋白相关神经变性（MPAN）的神经病理学特征

线粒体膜蛋白相关神经变性（MPAN）是一种罕见的遗传定义的神经变性伴脑铁积累（NBIA）亚型，由C19orf12的致病变异引起。我们报告一个尸检病例在一个年轻的成年人纯合子C19orf12错义变体。神经病理学检查显示白球内铁沉积，广泛的神经轴突球体，脑干，边缘和新皮质区域广泛的α-突触核蛋白病理。此外，我们在海马体和内嗅皮层发现了局灶性tau病理。

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

Neuropathology and Applied Neurobiology 医学-病理学

CiteScore

8.20

自引率

2.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Neuropathology and Applied Neurobiology is an international journal for the publication of original papers, both clinical and experimental, on problems and pathological processes in neuropathology and muscle disease. Established in 1974, this reputable and well respected journal is an international journal sponsored by the British Neuropathological Society, one of the world leading societies for Neuropathology, pioneering research and scientific endeavour with a global membership base. Additionally members of the British Neuropathological Society get 50% off the cost of print colour on acceptance of their article.