![]() 12 All patients previously described as having respiratory dysfunction who underwent genotyping were homozygous for methionine in the 129 codon. 6 It has been speculated that apnea, observed in several FFI patients, may be due to the pathological features of the brainstem. 1 Significant amounts of PrPSc have been demonstrated in several brainstem regions, including the locus coeruleus, periaqueductal gray matter, and olivary nuclei. Neuronal loss and gliosis have been reported in the brainstem in the olivary nuclei in white FFI patients. Patient 2 experienced diplopia, dysarthria, and dysphagia, and postmortem studies showed severe neuronal loss and astrogliosis of the oliva and degeneration of the vagal nuclei. PrPSc was also present in the periaqueductal gray matter. Patient 1 experienced apnea, diplopia, dysarthria, and dysphagia, and pathological studies demonstrated astrogliosis in the superior colliculus, periaqueductal gray area, and olivary nucleus. Both patients described herein have features compatible with brainstem involvement. 2 This was observed in both of the Chinese patients however, brainstem involvement was also documented. ![]() The primary site of pathological abnormalities in white patients with FFI is the thalamus. ![]() Insomnia was observed in this Chinese family, and the clinical features seen in the 2 Chinese patients described herein are similar to those seen in white patients with FFI. ![]() The Japanese report 11 of FFI documented the absence of clinical insomnia. According to these data, the finding of a valine haplotype in patients with prion disease seems improbable and the occurrence of the FFI phenotype seems forcedly favored compared with the CJD phenotype once the mutation at codon 178 occurs. A Chinese study 10 found the distribution of the polymorphism at PRNP codon 129 in the Han Chinese population to be as follows: 97% methionine/methionine, 3% methionine/valine, and 0% valine/valine (methionine is 0.985, and valine is 0.015). 8, 9 Fatal familial insomnia is molecularly distinguished from CJD because of a polymorphism at codon 129 on the mutated allele a methionine polymorphism predicts an FFI phenotype and a valine polymorphism predicts a CJD phenotype. 7 To our knowledge, FFI has not previously been described in the Chinese population, which is genetically distinct from the Japanese population. 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.įatal familial insomnia was first described in the European population and was subsequently described in families in the United States, Australia, and Japan. The strongest signals were present in the amygdala, hypothalamus, caudate, parahippocampal gyrus, periaqueductal gray matter, and mediodorsal thalamus.Ĭonclusions To our knowledge, this is the first report of FFI in a family of Chinese descent. PrPSc was detected on Western blot analysis, and had a wide distribution. Patient 1 also had neuronal loss and astrogliosis in the region of the superior colliculus and in the periaqueductal region. Both patients showed severe neuronal loss and prominent gliosis in the thalamus and brainstem involvement, with evidence of astrogliosis in the inferior olivary nucleus. Results Molecular analysis demonstrated an aspartic acid to asparagine mutation at codon 178 and homozygosity for methionine at codon 129. 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. 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. In the subsequent 9 months, he developed ataxia and dementia, followed by death. Patients Patient 1 was a 36-year-old man who presented with insomnia and myoclonus. Setting Tertiary referral university hospital setting. Objective To describe the clinical, neurophysiological, radiological, and neuropathological data in a Chinese family with FFI. Fatal familial insomnia is characterized by sleep disturbance and loss of neurons, with gliosis in the thalamic nuclei. Shared Decision Making and Communicationīackground Fatal familial insomnia (FFI) is an autosomal dominant disease linked to a mutation in the prion protein gene.Scientific Discovery and the Future of Medicine.Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience.Challenges in Clinical Electrocardiography. ![]()
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