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Potential implications of a ciliary neurotrophic factor gene mutation in a German population of patients with motor neuron disease.

Authors
  • Giess, R
  • Goetz, R
  • Schrank, B
  • Ochs, G
  • Sendtner, M
  • Toyka, K
Type
Published Article
Journal
Muscle & nerve
Publication Date
Feb 01, 1998
Volume
21
Issue
2
Pages
236–238
Identifiers
PMID: 9466600
Source
Medline
License
Unknown

Abstract

The frequency of a recently described point mutation of the ciliary neurotrophic factor (CNTF) gene was investigated in a population of 154 German patients with motor neuron disease (MND). Twenty-two percent of the patients were heterozygous, 2% homozygous for the CNTF mutation. Since the gene defect is per se not linked to MND, the identification of additional gene defects occurring simultaneously with this mutation could be informative for the understanding of pathogenic mechanisms of MND.

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