Lyons Shane, Lynch Timothy, Walsh Richard, O'Dowd Sean
Neurology Department Tallaght University Hospital Dublin Ireland.
Dublin Neurological Institute Mater Misericordiae University Hospital Dublin Ireland.
Mov Disord Clin Pract. 2023 Jan 24;10(3):482-485. doi: 10.1002/mdc3.13645. eCollection 2023 Mar.
Progressive supranuclear palsy (PSP)-Richardson's syndrome (RS) presents with a distinctive clinical phenotype of supranuclear ophthalmoplegia, parkinsonism, postural instability with falls, and cognitive impairment. Several rare neurological conditions have been described that mimic PSP, and the co-occurrence of dual pathologies has also been described.
In this article, we present 2 cases of patients who presented with a parkinsonian phenotype suggestive of PSP-RS. In 1 case, a family history and early levodopa-induced chorea led to testing for Huntington's disease, and a pathogenic mutation was found. In the second case, magnetic resonance imaging findings led to genetic confirmation of a pathogenic mutation.
These observations raised the possibility that HD and fragile-X tremor-ataxia syndrome may on occasion present with PSP-RS. Alternatively, and perhaps more likely, is the co-occurrence of 2 rare neurodegenerative conditions. Neuropathological studies of cases involving complex phenotypes in rare genetic conditions are required to better understand the likely pathologies in cases such as these.
进行性核上性麻痹-理查森综合征（PSP-RS）具有核上性眼肌麻痹、帕金森症、姿势性不稳伴跌倒以及认知障碍等独特的临床表型。已有多种罕见的神经系统疾病被描述为可模仿PSP，并且也有双重病理情况同时出现的报道。
在本文中，我们报告了2例表现出提示PSP-RS帕金森症表型的患者。在1例中，家族史以及早期左旋多巴诱发的舞蹈症促使对亨廷顿病进行检测，并发现了一个致病突变。在第2例中，磁共振成像结果导致对一个致病突变进行了基因确认。
这些观察结果提出了一种可能性，即HD和脆性X震颤-共济失调综合征有时可能表现为PSP-RS。或者，也许更有可能的是两种罕见神经退行性疾病同时出现。需要对涉及罕见遗传疾病复杂表型的病例进行神经病理学研究，以更好地了解此类病例可能的病理情况。
