Paulus-Andres Jordan A, Burnett Melinda S
Creighton University School of Medicine (JAP-A); and Department of Neurology (MSB), Creighton University School of Medicine, Omaha, NE.
Neurol Clin Pract. 2021 Jun;11(3):256-262. doi: 10.1212/CPJ.0000000000000947.
In this review we seek to raise awareness of 3 autosomal recessive ataxias that look different clinically when presenting in adulthood rather than childhood.
A study found a high allelic frequency for repeat expansions in the gene, a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, which presents exclusively in adults. This implies that autosomal recessive etiologies of adult-onset cerebellar ataxias may be more common than previously thought.
Adult-onset cerebellar ataxias are commonly caused by mutations inherited in either an autosomal dominant or X-linked pattern, as most autosomal recessive mutations cause disease at earlier ages. However, some autosomal recessive etiologies such as late-onset Tay-Sachs disease, very late-onset Friedreich ataxia, and autosomal recessive spastic ataxia of Charlevoix-Saguenay emerge in adulthood, with age at presentation influencing the progression and clinical signs of the disease. This review will cover the genetics, clinical presentation, and necessary diagnostic steps required to identify 3 causes of autosomal recessive cerebellar ataxia that manifest differently in adults vs children.
在本综述中，我们旨在提高对3种常染色体隐性遗传性共济失调的认识，这些疾病在成年期而非儿童期出现时，临床表现有所不同。
一项研究发现，在导致小脑共济失调、神经病变和前庭无反射综合征的基因中，重复序列扩张的等位基因频率很高，该疾病仅在成年人中出现。这意味着成人起病的小脑共济失调的常染色体隐性病因可能比以前认为的更为常见。
成人起病的小脑共济失调通常由常染色体显性或X连锁模式遗传的突变引起，因为大多数常染色体隐性突变在较早年龄导致疾病。然而，一些常染色体隐性病因，如迟发性泰-萨克斯病、极迟发性弗里德赖希共济失调和魁北克常染色体隐性痉挛性共济失调，在成年期出现，发病年龄会影响疾病的进展和临床症状。本综述将涵盖遗传学、临床表现以及识别3种常染色体隐性小脑共济失调病因所需的必要诊断步骤，这些病因在成人和儿童中的表现有所不同。
