Lopriore Piervito, Vista Marco, Tessa Alessandra, Giuntini Martina, Caldarazzo Ienco Elena, Mancuso Michelangelo, Siciliano Gabriele, Santorelli Filippo Maria, Orsucci Daniele
Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
J Clin Med. 2024 Apr 19;13(8):2391. doi: 10.3390/jcm13082391.
Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in ), this article will review ataxias due to PCoQD.
小脑共济失调是一种神经综合征，其特征为因小脑或其连接功能障碍导致的失衡（如躯干共济失调、步态共济失调）以及执行任务时肢体不协调（辨距不良）。它常与小脑功能障碍的其他体征相关，包括异常眼动、辨距不良、运动性震颤、构音障碍和/或吞咽困难。在所谓的线粒体共济失调中，编码辅酶Q10生物合成途径步骤的基因变异是常染色体隐性原发性辅酶Q10缺乏症（PCoQD）的常见病因。PCoQD是一种潜在可治疗的病症；因此，正确及时的诊断至关重要。在简要介绍一名患有此病的意大利女性的典型病例（由于 中一种新的纯合无义突变）后，本文将综述由PCoQD引起的共济失调。
