JNNP: Clinical features of fatal familial insomnia

The FFI symptoms and signs are further divided into three groups (sleep-related, neuropsychiatric, and progressive sympathetic) to promote FFI recognition
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However, the core clinical characteristics have not yet been determined

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This article was published in " Journal of Neurology, Neurosurgery & Psychiatry " ( Journal of Neurology, Neurosurgery & Psychiatry )

From 2012 to 2021, in the Department of Neurology of Xuanwu Hospital, 11 consecutive patients were identified through the established FFI diagnostic criteria and confirmed through genetic analysis (PRNP: D178N)

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The search terms used are "insomnia, fatal familial" or "familial insomnia" or "fatal insomnia" or ((familial insomnia or fatal insomnia) and (prion or PRNP or prion prion virus) Protein or PrPSc or PrPc or PrP gene))
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The global regional distribution of FFI patients in Asia (n=66) and non-Asia (n=74)

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In order to extract detailed information (demographic data and clinical symptoms, auxiliary examinations and genetic results of FFI), a "survey form" was compiled based on the consensus of experts on the clinical diagnostic criteria of FFI
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The questionnaire contains the following information: gender; age of onset; course of disease; clear family history; three groups of clinical symptoms (sleep-related, neuropsychiatric, and sexual sympathetic); seven auxiliary examinations (genetic analysis, brain MRI, EEG) (EEG), polysomnography (PSG), positron emission tomography (PET), single photon emission CT (SPECT) and cerebrospinal fluid (CSF) 14-3-3 protein detection) results

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The Kaplan-Meier curve shows the difference in survival probability

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A total of 131 cases were identified
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The age of onset was 47.

51±12.

The comparison between Asians and non-Asians showed some differences in clinical symptoms and genetic background (p<0.

Neuronal loss and glial hyperplasia of the thalamic nucleus are the main histopathological features of FFI, but the thalamus can only be confirmed by autopsy before injury
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SPECT and PET are promising biopsies that can be used to detect abnormalities in thalamus metabolism or perfusion, which may help diagnose FFI before genetic testing
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Neuronal loss and glial hyperplasia of the thalamic nucleus are the main histopathological features of FFI, but the thalamus can only be confirmed by autopsy before injury
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SPECT and PET are promising biopsies that can be used to detect abnormalities in thalamus metabolism or perfusion, which may help diagnose FFI before genetic testing
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In short, insomnia, RPD and hypertension are typical key clinical manifestations of FFI
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The prion gene 129-Met is considered to be a risk factor for FFI in non-Asian populations
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ZhangJ ,ChuM ,TianZ ZhangJZhang ChuMChu TianZTian, et alClinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regionsJournal of Neurology, Neurosurgery & PsychiatryPublished Online First:19 October 2021.
 Published Online First: doi: 10.
1136/jnnp-2021-327247doi:Leave a message here