Bereznyakova Olena, Dupré Nicolas
Neuroscience Axis, CHU de Québec-Laval University, Quebec, QC, Canada.
Neuroscience Axis, CHU de Québec-Laval University, Quebec, QC, Canada; Neuromuscular and Neurogenetic Disease Clinic, CHU de Québec-Laval University, Quebec, QC, Canada.
Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3.
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E deficiency. Certain spastic paraplegias, such as spastic paraplegia 7, may present as an ataxic phenotype and often share common pathophysiologic pathways with cerebellar ataxias. Because of the rarity and genetic heterogeneity of these conditions, their molecular diagnosis remains challenging and time consuming. Herein we review the clinical, epidemiologic, and genetic features of the best-defined spastic ataxias with a focus on autosomal-recessive spastic ataxia of Charlevoix-Saguenay, one of the most frequent ataxias worldwide, which presents with a unique early-onset spastic ataxia phenotype. We briefly discuss other genetic and metabolic multisystem disorders where spastic ataxia is a secondary feature. Emphasis is placed on their typical age of onset and key clinical and imaging features that enable discrimination between these complex diseases.
痉挛和锥体束征的存在是某些遗传性共济失调的标志，如常染色体隐性遗传的沙勒沃伊-萨格奈痉挛性共济失调、其他原发性痉挛性共济失调、弗里德赖希共济失调或孤立性维生素E缺乏症伴共济失调。某些痉挛性截瘫，如痉挛性截瘫7型，可能表现为共济失调表型，且通常与小脑性共济失调共享常见的病理生理途径。由于这些病症罕见且具有遗传异质性，其分子诊断仍然具有挑战性且耗时。在此，我们回顾了最明确的痉挛性共济失调的临床、流行病学和遗传学特征，重点关注沙勒沃伊-萨格奈常染色体隐性遗传痉挛性共济失调，它是全球最常见的共济失调之一，具有独特的早发性痉挛性共济失调表型。我们简要讨论了其他以痉挛性共济失调为次要特征的遗传和代谢性多系统疾病。重点介绍了它们的典型发病年龄以及能够区分这些复杂疾病的关键临床和影像学特征。
