Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease
Ralf Giess MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorRudolf Goetz PhD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorBertold Schrank MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorGuenter Ochs MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorMichael Sendtner MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorCorresponding Author
Klaus Toyka MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, GermanySearch for more papers by this authorRalf Giess MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorRudolf Goetz PhD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorBertold Schrank MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorGuenter Ochs MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorMichael Sendtner MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Search for more papers by this authorCorresponding Author
Klaus Toyka MD
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, Germany
Neurologische Universitaetsklinik, Josef Schneider Straße 11, D-97080 Wuerzburg, GermanySearch for more papers by this authorAbstract
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. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 236–238, 1998
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