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Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings |
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| Authors: | Lindahl Andrea J Lhatoo Sam D Campbell Malcolm J Nicholson Garth Love Seth |
| Affiliation: | aDepartment of Neurology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol BS16 1LE, UK bNeurobiology Laboratory, Anzac Research Institute, University of Sydney, Concord Hospital, Concord, NSW, Australia cDepartment of Neuropathology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol BS16 1LE, UK |
| Abstract: | There is little published information on the autopsy findings in hereditary sensory neuropathy type I (HSN I), and none in genetically confirmed cases. We report the neuropathological findings in a 93-year-old woman with a disease of unusually late onset, who was part of a large HSN I kindred and in whom genetic analysis confirmed an SPTLC1 T399G mutation. |
| Keywords: | Hereditary sensory neuropathy Hereditary neuropathy of late-onset Pathology Genetics SPTLC1 |
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