Lee Mi Ji, Shin Jisoo, Chung Eun Joo, Kim Sang-Jin, Kwon Soonwook, Kim Jung-Hyun, Seo Sang Won, Ki Chang-Seok, Na Duk L
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Case Rep Neurol. 2014 Oct 30;6(3):243-50. doi: 10.1159/000365412. eCollection 2014 Sep.
Fatal familial insomnia (FFI) is a rare genetic disease characterized by intractable insomnia, dysautonomia, and dementia. Herein we describe a patient with FFI. In order to study brain glucose hypometabolism in the patient, we used statistical parametric mapping (SPM) analysis of [(18)F]-fluorodeoxyglucose positron emission tomography (FDG-PET).
The patient was a 34-year-old Korean man. He presented with intractable insomnia, rapidly progressive dementia and autonomic disturbances. A comprehensive clinical investigation was conducted, including brain MRI, electroencephalography, polysomnography, neuropsychological tests, FDG-PET and genomic tests. SPM analysis was performed using 7 healthy controls. Direct sequencing of the PRNP gene identified a heterozygous p. Asp179Asn mutation homozygous for methionine at codon 129 and for glutamate at codon 219. The results of the SPM analysis showed marked hypometabolism in the deep cerebral nuclei (including the bilateral thalami, caudate nuclei, and hypothalamus), association cortices (including the frontal, lateral temporal, inferior parietal lobule and posterior cingulate gyri), and midbrain.
This is the first Korean report of FFI, in which the family showed male phenotypic predominance. The patient's SPM analysis demonstrated brain hypometabolism in the midbrain and the hypothalamus, as well as the thalami, caudate nuclei, and multiple cortical regions. These results contribute further to the overall understanding of the pathophysiology of FFI.
致死性家族性失眠症（FFI）是一种罕见的遗传性疾病，其特征为顽固性失眠、自主神经功能障碍和痴呆。在此，我们描述一名FFI患者。为研究该患者脑葡萄糖代谢减低情况，我们使用了[（18）F] - 氟脱氧葡萄糖正电子发射断层扫描（FDG - PET）的统计参数映射（SPM）分析。
该患者为一名34岁的韩国男性。他表现为顽固性失眠、快速进展性痴呆和自主神经功能紊乱。进行了全面的临床检查，包括脑部MRI、脑电图、多导睡眠图、神经心理学测试、FDG - PET和基因检测。使用7名健康对照进行SPM分析。PRNP基因的直接测序鉴定出一个杂合的p.Asp179Asn突变，该突变在密码子129处为甲硫氨酸纯合，在密码子219处为谷氨酸纯合。SPM分析结果显示，大脑深部核团（包括双侧丘脑、尾状核和下丘脑）、联合皮质（包括额叶、颞叶外侧、顶下小叶和后扣带回）以及中脑存在明显的代谢减低。
这是韩国首例关于FFI的报告，该家族表现出男性表型优势。患者的SPM分析显示中脑、下丘脑以及丘脑、尾状核和多个皮质区域存在脑代谢减低。这些结果进一步有助于全面了解FFI的病理生理学。
