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Analysis of the Prion Protein Gene in Thalamic Dementia Neurol 42:1859-1863, Petersen,R.B.,et al, 1992 See this aricle in Pubmed Article Abstract 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 prior 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 178Asm 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 178Asm mutation and fatal familial insomnia share clinical and histopathologic features,we propose that they are the same disease.

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(click to filter results - removes previous filter) dementia dementia,thalamic familial fatal familial insomnia genetic neurologic disorders multiple system atrophy prion disease thalamus,lesion of

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