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

Authors
  • Triplett, James1
  • Nicholson, Garth2, 3, 4
  • Sue, Carolyn3, 5, 6
  • Hornemann, Thorsten7
  • Yiannikas, Con1, 3
  • 1 Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia. , (Australia)
  • 2 Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia. , (Australia)
  • 3 Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia. , (Australia)
  • 4 Molecular Medicine, Concord Repatriation General Hospital, Sydney, New South Wales, Australia. , (Australia)
  • 5 Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia. , (Australia)
  • 6 Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia. , (Australia)
  • 7 Institute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland. , (Switzerland)
Type
Published Article
Journal
Journal of the peripheral nervous system : JPNS
Publication Date
Jun 01, 2019
Volume
24
Issue
2
Pages
224–229
Identifiers
DOI: 10.1111/jns.12315
PMID: 30866134
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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 Müller cell loss. It has a presumed genetic basis, and these cases suggest that the accumulation of toxic sphingoplipids may lead to Müller cell degeneration, subsequent neuronal loss, depigmentation, and progressive central macular thinning. © 2019 Peripheral Nerve Society.

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