期刊
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
卷 19, 期 8, 页码 -出版社
SPRINGER
DOI: 10.1007/s11910-019-0974-3
关键词
Congenital insensitivity to pain; Familial dysautonomia; Hereditary sensory and autonomic neuropathies; IKBKAP; ELP1; L-Serine
Purpose of ReviewHereditary sensory and autonomic neuropathies (HSANs) are a clinically heterogeneous group of inherited neuropathies featuring prominent sensory and autonomic involvement. Classification of HSAN is based on mode of inheritance, genetic mutation, and phenotype. In this review, we discuss the recent additions to this classification and the important updates on management with a special focus on the recently investigated disease-modifying agents.Recent FindingsIn this past decade, three more HSAN types were added to the classification creating even more diversity in the genotype-phenotype. Clinical trials are underway for disease-modifying and symptomatic therapeutics, targeting mainly HSAN type III.SummaryObtaining genetic testing leads to accurate diagnosis and guides focused management in the setting of such a diverse and continuously growing phenotype. It also increases the wealth of knowledge on HSAN pathophysiologies which paves the way toward development of targeted genetic treatments in the era of precision medicine.
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