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

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

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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

机译：具有D178N突变和纯合金的患者在朊病毒蛋白基因的密码子129中患者患者的家族性致命失眠

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. 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.

机译：。家族性致命失眠（FFI）是致命疾病，其特征在于选择丘脑的损伤，与进一步的失眠和脱血语核。在携带D178N朊病毒蛋白（PRNP）突变的受试者中，取决于甲硫氨酸（MET）/缬氨酸（VAL）密码子129多态性，可以观察到不同的表型。我们在此报告了FFI的FFI与PRNP基因的D178N / MET129基因型，其表现出迅速进行性痴呆与行为干扰和阵发性肢体肌阵挛联合。我们的患者在疾病过程中早期没有显示难治性失眠，也没有展示典型的MRI和EEG改变。类似症状的家族史。

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来源
《Prion》 |2015年第3期|共8页
作者
Sun Lin; Li Xia; Lin Xiang; Yan Feng; Chen Kathryn; Xiao Shifu;
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作者单位

Shanghai Jiao Tong Univ Shanghai Mental Hlth Ctr Alzheimers Dis &

Related Disorders Ctr Dept;

Shanghai Jiao Tong Univ Shanghai Mental Hlth Ctr Alzheimers Dis &

Related Disorders Ctr Dept;

Shanghai Jiao Tong Univ Shanghai Mental Hlth Ctr Alzheimers Dis &

Related Disorders Ctr Dept;

Shanghai Jiao Tong Univ Shanghai Mental Hlth Ctr Alzheimers Dis &

Related Disorders Ctr Dept;

Univ Washington Dept Psychiat &

Behav Sci Seattle WA 98195 USA;

Shanghai Jiao Tong Univ Shanghai Mental Hlth Ctr Alzheimers Dis &

Related Disorders Ctr Dept;

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原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
D178N; Familial fatal insomnia; Met129; prion protein; D178N; Asp178Asn; FFI; familial fatal insomnia; Met 129; Methionine 129; PRNP; prion protein;

机译：D178N;家族性致命失眠;MET129;朊病毒蛋白;D178N;ASP178ASN;FFI;家族性致命失眠;见过129;蛋氨酸129;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;PRNP;朊病毒蛋白;

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专利

1. 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 [J] . Sun Lin, Li Xia, Lin Xiang, Prion . 2015,第3期

机译：D178N突变且and病毒蛋白基因第129位密码子具有Met纯合性的患者，具有非典型临床特征的家族性致命性失眠
2. 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 [J] . Lin Sun, Xia Li, Xiang Lin, Prion . 2015,第3期

机译：D178N突变且and病毒蛋白基因第129位密码子具有Met纯合性的患者，具有非典型临床特征的家族性致命性失眠
3. 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 [J] . Sun Lin, Li Xia, Lin Xiang, Prion . 2015,第3期

机译：具有D178N突变和纯合金的患者在朊病毒蛋白基因的密码子129中患者患者的家族性致命失眠
4. LACK OF CORRELATION BETWEEN AMYLOID A PROTEIN LEVELS AND CLINICAL PARAMETERS IN ASPIRATED FAT TISSUE OF FAMILIAL MEDITERRANEAN FEVER PATIENTS WITH SECONDARY AMYLOIDOSIS [C] . M Lidar, B P. Hazenberg, J Bijzet, International Symposium on Amyloidosis . 2008

机译：淀粉样蛋白蛋白质水平与家族地中海发热患者的吸气脂肪组织蛋白水平与临床参数之间的相关性
5. Clinical implications of mutations in thep53 tumor suppressor gene in female patients with breast cancer. [D] . Lai, Hong Chen. 2002

机译：女性乳腺癌女性患者p53抑癌基因突变的临床意义。
6. 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 [O] . Lin Sun, Xia Li, Xiang Lin, 2015

机译：D178N突变且and病毒蛋白基因第129位密码子的Met纯合性患者的家族性致命性失眠
7. Medical genetics: advances in brief: Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene [O] . Norman, A M 1992

机译：医学遗传学：简要的进展：致命的家族性失眠，一种病毒病，disease病毒蛋白基因的178号密码子发生了突变

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

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