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

Lin Sun; Xia Li; Xiang Lin; Feng Yan; Kathryn Chen; Shifu Xiao

doi:10.1080/19336896.2015.1054601

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

Prion. 2015;9(3):228-35. doi: 10.1080/19336896.2015.1054601.

Authors

Lin Sun¹, Xia Li, Xiang Lin, Feng Yan, Kathryn Chen, Shifu Xiao

Affiliation

¹ 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.

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.

Keywords: D178N; D178N, Asp178Asn; FFI, familial fatal insomnia; Familial fatal insomnia; Met 129, Methionine 129; Met129; PRNP, prion protein; prion protein.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Brain / pathology
Codon / genetics*
Electroencephalography
Female
Homozygote*
Humans
Insomnia, Fatal Familial / genetics*
Magnetic Resonance Imaging
Male
Methionine / genetics*
Middle Aged
Molecular Sequence Data
Mutation / genetics*
Pedigree
Prions / genetics*

Substances

Codon
Prions
Methionine