LAUSR

Idiopathic is used to characterize disorders for which we know neither the cause nor pathogenesis. While “idiopathic” may sound more scientific than simply confessing “I don't know,” it really does not address patient concerns such as why patients are having symptoms and what can be done to reverse them. Chronic idiopathic axonal neuropathy (CIAP) is a particularly challenging example of an idiopathic group of disorders that plague neuromuscular caregivers, particularly those caring for adult patients with peripheral neuropathy. Neuropathies are increasingly frequent with age, affecting up to 8% of the population >65 years of age.1,2 Approximately half of these lack a precise diagnosis, are typically axonal, and can be considered as CIAP. Next-generation sequencing (NGS) genetic diagnostic tools such as whole-exome sequencing (WES) are able to genetic identify causes of neuropathy in single individuals or small families with neuropathy. Therefore, it is exciting to see that Senderek et al.,3 in the current issue of Neurology®, identified a likely genetic cause of neuropathy in up to 18% of a cohort of 230 individuals with CIAP in whom symptoms began after 35 years of age.