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Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias


Hereditary sensory and autonomic neuropathy type I (HSAN-1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes. We present two generations of a single family with Ser384Phe mutation in the SPTLC2 gene located on chromosome 14q24 characterized by a typical HSAN-1c presentation, with additional findings upper motor neuron signs, early demyelinating features on nerve conduction studies, and type II juxtafoveal retinal telangiectasias also known as macular telangiectasias (MacTel II). Although HSAN1 is characterized as an axonal neuropathy, demyelinating features were identified in two subjects on serial nerve conduction studies comprising motor conduction block, temporal dispersion, and prolongation of F-waves. MacTell II is a rare syndrome characterized by bilateral macular depigmentation and Muller cell loss. It has a presumed genetic basis, and these cases suggest that the accumulation of toxic sphingoplipids may lead to Muller cell degeneration, subsequent neuronal loss, depigmentation, and progressive central macular thinning.

Type Journal
ISBN 1529-8027 (Electronic) 1085-9489 (Linking)
Authors Triplett, J.; Nicholson, G.; Sue, C.; Hornemann, T.; Yiannikas, C.
Responsible Garvan Author (missing name)
Published Date 2019-06-01
Published Volume 24
Published Issue 2
Published Pages 224-229
Status Published in-print
DOI 10.1111/jns.12315
URL link to publisher's version