Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.
Cellular prion-protein is expressed in axons and Schwann cells of peripheral nerves. Some patients with prion diseases show peripheral nerve involvement and prion-protein deficient mice develop age dependent demyelination of peripheral nerves. Therefore we tested the hypothesis that mutations in the prion-protein gene might also cause hereditary motor and sensory neuropathies. We screened 108 patients with a diagnosis of hereditary motor and sensory neuropathies in whom the common genetic defects causing hereditary motor and sensory neuropathies had previously been excluded for mutations in the protein-coding region of the PRNP gene. Mutations in the coding region of the prion-protein gene were not found. We conclude that mutations in the protein coding region of the prion-protein gene are not a common cause of HMSN (95% CI 0-0.034).
Koop
Olga
O
Department of Neurology, University of Münster, Münster, Germany.
Timmerman
Vincent
V
de Jonghe
Peter
P
Ringelstein
Bernd
B
Young
Peter
P
Kuhlenbäumer
Gregor
G
D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005787:Gene Frequency; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011328:Prions / Q000235:genetics*
D011328:Prions