Fatal familial insomnia: the first account in a family of Chinese descent.
BACKGROUND
Fatal familial insomnia (FFI) is an autosomal dominant disease linked to a mutation in the prion protein gene. Fatal familial insomnia is characterized by sleep disturbance and loss of neurons, with gliosis in the thalamic nuclei.


OBJECTIVE
To describe the clinical, neurophysiological, radiological, and neuropathological data in a Chinese family with FFI.


METHODS
Tertiary referral university hospital setting.


METHODS
Patient 1 was a 36-year-old man who presented with insomnia and myoclonus. In the subsequent 9 months, he developed ataxia and dementia, followed by death. Patient 2 was the aunt of patient 1, and presented at the age of 47 years with insomnia, myoclonus, and dementia; her condition declined during a 12-month period. Genetic analysis was performed, followed by neuropathological and biochemical analysis of the disease-associated form of the prion protein PrPSc on the postmortem brain specimen.


RESULTS
Molecular analysis demonstrated an aspartic acid to asparagine mutation at codon 178 and homozygosity for methionine at codon 129. Both patients showed severe neuronal loss and prominent gliosis in the thalamus and brainstem involvement, with evidence of astrogliosis in the inferior olivary nucleus. Patient 1 also had neuronal loss and astrogliosis in the region of the superior colliculus and in the periaqueductal region. PrPSc was detected on Western blot analysis, and had a wide distribution. The strongest signals were present in the amygdala, hypothalamus, caudate, parahippocampal gyrus, periaqueductal gray matter, and mediodorsal thalamus.


CONCLUSIONS
To our knowledge, this is the first report of FFI in a family of Chinese descent. This supports the worldwide distribution of FFI, and despite differences in genetic background, the clinical and pathological findings are similar to those found in white patients with FFI.
Spacey
Sian D
SD
Division of Neurology, Department of Medicine, The University of British Columbia, S192-2211 Wesbrook Mall, Vancouver, BC, Canada V6L 1P8.
Pastore
Manuela
M
McGillivray
Barbara
B
Fleming
Jonathan
J
Gambetti
Pierluigi
P
Feldman
Howard
H
D000328:Adult; D015153:Blotting, Western; D001921:Brain / Q000473:pathology*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D018620:PrPSc Proteins / Q000032:analysis*
D018620:PrPSc Proteins