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Analysis of the prion protein gene in thalamic dementia

Division of Neuropathology (Drs. Petersen, Tabaton, Autilio-Gambetti, and Gambetti), Institute of Pathology, Case Western Reserve University, Cleveland, OH; the Departments of Neurology (Dr. Berg), Genetics (Dr. Schrank), and Pathology (Dr. Torack), Washington University School of Medicine, St. Louis, MO; the Department of Genetics and Development (S. Leal and Dr. Ott), Columbia University, New York, Ny; the Departments of Neurology (Drs. Julien and Deleplanque) and Pathology (Dr. Vital), University of Bordeaux Medical School, Bordeaux, France; the Department of Pathology (Dr. Pendlebury), University of Vermont, Burlington, VT; the Department of Neurology (Drs. Drachman and Smith), University of Massachusetts, Worcester, MA, the Laboratory of Neuropathology (Dr. Martin), Universitaire Instelling Antwerpen, Wilrijk, Belgium; the Division of Pathology (Dr. Oda), Tokyo Metropolitan Neurological Hospital, Tokyo, Japan; and the Neurological Institute (Drs. Montagna and Lugaresi), University of Bologna, Bologna, Italy.

Thalamic degenerations or dementias are poorly understood conditions. The familial forms are (1) selective thalamic degenerations and (2) thalamic degenerations associated with multiple system atrophy. Selective thalamic degenerations share clinical and pathologic features with fatal familial insomnia, an autosomal dominant disease linked to a mutation at codon 178 of the prion protein (PrP) gene that causes the substitution of asparagine for aspartic acid (178^Asn mutation). We amplified the carboxyl terminal coding region of the PrP gene from subjects with selective thalamic dementia or thalamic dementia associated with multiple system atrophy. Three of the four kindreds with selective thalamic dementia and none of the three kindreds with thalamic dementia associated with multiple system atrophy had the PrP 178^Asn mutation. Thus, analysis of the PrP gene may be useful in diagnosing the subtypes of thalamic dementia. Moreover, since selective thalamic dementia with the PrP 178^Asn mutation and fatal familial insomnia share clinical and histopathologic features, we propose that they are the same disease.

Address correspondence and reprint requests to Dr. Robert B. Petersen, Division of Neuropathology, Institute of Pathology, Case Western Reserve University, 2085 Adelbert Road, Cleveland, OH 44106.

Supported by NINCDS NS 14509–13, NIA ADRC AG–08012–02, NIH NIA 1 R01 AGNS08155-Q, the Britton Fund, and NIH HG 0008 (J.O.).

Received May 15, 1992. Accepted for publication in final form June 8, 1992.

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