title: Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene.
abstract: Familial fatal insomnia (FFI) is fatal disorder characterized by damage to select thalamic nuclei, together with progressive insomnia and dysautonomia. In subjects carrying the D178N prion protein (PRNP) mutation, distinct phenotypes can be observed, depending on the methionine (Met) /valine (Val) codon 129 polymorphism. We report here a Chinese case of FFI with a D178N/Met129 genotype of the PRNP gene, who exhibited rapidly progressive dementia combined with behavioral disturbances and paroxysmal limb myoclonus. Our patient did not show refractory insomnia early in the disease course, nor demonstrate typical MRI and EEG alterations. There was remarkable family history of similar symptoms.
authors.affiliation: a Alzheimer's Disease and Related Disorders Center; Department of Geriatric Psychiatry ; Shanghai Mental Health Center; Shanghai Jiao Tong University School of Medicine ; Shanghai , P.R. China.
authors.forename: Lin
authors.initials: L
authors.lastname: Sun
authors.forename: Xia
authors.initials: X
authors.lastname: Li
authors.forename: Xiang
authors.initials: X
authors.lastname: Lin
authors.forename: Feng
authors.initials: F
authors.lastname: Yan
authors.forename: Kathryn
authors.initials: K
authors.lastname: Chen
authors.forename: Shifu
authors.initials: S
authors.lastname: Xiao
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000473:pathology; D003062:Codon / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006720:Homozygote; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008715:Methionine / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011328:Prions / Q000235:genetics*
chemical_list: D003062:Codon; D011328:Prions; D008715:Methionine
keywords: D178N; D178N, Asp178Asn; FFI, familial fatal insomnia; Familial fatal insomnia; Met 129, Methionine 129; Met129; PRNP, prion protein; prion protein