17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1

G. L. Mancardi, A. Uccelli, E. Bellone, A. Sghirlanzoni, P. Mandich, D. Pareyson, A. Schenone, M. Abbruzzese, F. Ajmar

Research output: Contribution to journalArticlepeer-review

Abstract

We investigated the presence of duplication in chromosome 17p 11.2 in 4 individuals with sporadic Charcot-Marie-Tooth disease (CMT 1) and 1 isolated case where a definite differential diagnosis between CMT 1 and Déjérine- Sottas disease was not achieved. The 5 affected cases and their parents and relatives were submitted to a complete clinical, neurophysiologic and genetic evaluation. A sural nerve biopsy was performed in all the isolated patients. Paternity was tested and confirmed. The presence of DNA duplication was detected in all the sporadic cases and was absent in all parents and relatives, thus confirming that a de novo dominant mutation is commonly present also in patients without a familial history and that there is a practical relevance of the genetic study in distinguishing isolated cases of CMT 1 from other forms of hereditary motor and sensory neuropathies or demyelinating neuropathies.

Original languageEnglish
Pages (from-to)135-139
Number of pages5
JournalEuropean Neurology
Volume34
Issue number3
DOIs
Publication statusPublished - 1994

Keywords

  • Charcot-Marie-Tooth disease
  • Déjérine-Sottas disease
  • Genetic study
  • Hereditary motor and sensory neuropathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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