Hereditary sensory neuropathy type 1 in a Portuguese family - Electrodiagnostic and autonomic nervous system studies

Ruth Geraldes, Mamede De Carvalho, Mariana Santos-Bento, Garth Nicholson

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Hereditary sensory and autonomic neuropathy type 1 (HSAN 1) is a dominantly inherited disorder; its gene locus is mapped on chromosome 9q22. Three different missense mutations (C133Y, C133W and V144D) have been described in 11 families from Australia, England and Austria. Common clinical features have been found in these families. We report the clinical and electrophysiological features of three members of a large Portuguese family with HSAN 1 and the C133Y missense mutation. The affected members showed typical clinical features. Electrophysiological findings were consistent with a distal axonal predominantly sensory neuropathy with motor involvement, in three different severity stages. No autonomic involvement was detected in sudomotor and cardiovascular tests. This report documents the lesion of the motor nerve fibers in this disease, as well as the preservation of the autonomic nervous system function, therefore suggesting that HSNA is an inappropriate name for this disorder.

Original languageEnglish
Pages (from-to)35-38
Number of pages4
JournalJournal of the Neurological Sciences
Volume227
Issue number1
DOIs
Publication statusPublished - 15 Dec 2004
Externally publishedYes

Keywords

  • Dysautonomia
  • Electromyography
  • Hereditary sensory neuropathy
  • Portuguese family
  • Skin changes

Fingerprint Dive into the research topics of 'Hereditary sensory neuropathy type 1 in a Portuguese family - Electrodiagnostic and autonomic nervous system studies'. Together they form a unique fingerprint.

Cite this