Purpose of reviewThis review will increase vigilance for 3 autosomal recessive ataxias that look different clinically when presenting in adulthood rather than childhood.Recent findingsA study found a high allelic frequency for repeat expansions in the RFC1 gene, a cause of Cerebellar Ataxia, Neuropathy, 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.SummaryAdult-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's Ataxia, and ARSACS 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.
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia
