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A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease

Departments of Neurology (Drs. Bosque and McLean), Pathology (Drs. Vnencak-Jones and Johnson), and Pediatrics (Drs. Vnencak-Jones and Whitlock), Vanderbilt University Medical Center, Nashville, TN; and the Department of Neurology (Dr. McLean), Veterans Administration Hospital, Nashville, TN.

Several mutations in the prion protein (PrP) gene are associated with familial Creutzfeldt-Jakob disease (FCJD). We describe a family in which five members in three generations have had FCJD. The proband and some descendants of the affected members carried an abnormal PrP gene allele. This allele contained a 24-bp deletion from the tandem repeat region of the open reading frame and a codon 178 missense substitution. Observations suggest that the codon 178 mutation is involved in the pathogenesis of FCJD in the family described here. The 24-bp deletion may be an uncommon polymorphism.

Address correspondence and reprint requests to Dr. Patrick Bosque, Department of Neurology, HSE 781, UCSF, San Francisco, CA 94143–0518.

Received December 9, 1991. Accepted for publication in final form March 10, 1992.

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