Authors
Petersen, R. B.Tabaton, M.
Berg, L.
Schrank, B.
Torack, R. M.
Leal, S.
Julien, J.
Vital, C.
Deleplanque, B.
Pendlebury, W. W.
Drachman, David A.
UMass Chan Affiliations
Department of NeurologyDocument Type
Journal ArticlePublication Date
1992-10-01Keywords
Base SequenceDementia
*Genes
Humans
Molecular Probes
Molecular Sequence Data
Mutation
Nerve Degeneration
Nerve Tissue Proteins
Pedigree
PrPSc Proteins
Prion Diseases
Prions
Thalamic Diseases
Neurology
Neuroscience and Neurobiology
Metadata
Show full item recordAbstract
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 (178Asn 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 178Asn 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 178Asn mutation and fatal familial insomnia share clinical and histopathologic features, we propose that they are the same disease.Source
Neurology. 1992 Oct;42(10):1859-63.
DOI
10.1212/WNL.42.10.1859Permanent Link to this Item
http://hdl.handle.net/20.500.14038/37651PubMed ID
1357593Notes
Full author list omitted for brevity. For the full list of authors, see article.
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10.1212/WNL.42.10.1859