Nicastro Nicolas, Ranza Emmanuelle, Antonarakis Stylianos E, Horvath Judit
Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.
Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Cerebellum. 2016 Dec;15(6):829-831. doi: 10.1007/s12311-015-0749-6.
Progressive ataxia with palatal tremor (PAPT) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. Etiologies include acquired posterior fossa lesions (e.g. tumors, superficial siderosis, and inflammatory diseases) and genetic disorders, such as glial fibrillary acidic protein (GFAP) and polymerase gamma (POLG) mutations. We describe the case of a 52-year-old man who developed pure progressive ataxia and palatal tremor. Genetic analysis has shown that he is compound heterozygote for a known pathogenic (W748S) and a novel POLG variant (I1185N). Patients with POLG recessive mutations usually manifest a more complex clinical picture, including polyneuropathy and epilepsy; our case emphasizes the need to consider a genetic origin in a seemingly sporadic and pure PAPT.
进行性共济失调伴腭震颤（PAPT）是一种由涉及齿状红核橄榄束的小脑和脑干病变引起的综合征，并与肥大性橄榄核变性相关。病因包括后天性后颅窝病变（如肿瘤、表面铁沉积症和炎症性疾病）以及遗传疾病，如胶质纤维酸性蛋白（GFAP）和聚合酶γ（POLG）突变。我们描述了一名52岁男性患者，他出现了单纯的进行性共济失调和腭震颤。基因分析显示，他是一种已知致病突变（W748S）和一种新型POLG变异（I1185N）的复合杂合子。携带POLG隐性突变的患者通常表现出更复杂的临床症状，包括多发性神经病和癫痫；我们的病例强调了在看似散发的单纯PAPT病例中需要考虑遗传起源。
