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Neurology. 1992 Mar;42(3 Pt 1):669-70.

Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

Author information

1
Division of Neuropathology, Case Western Reserve University, Cleveland, OH.

Abstract

Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second family further validates FFI as a distinct disease entity and a phenotype of the GAC----AAC mutation at codon 178 of the prion gene.

PMID:
1347910
[Indexed for MEDLINE]

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