Evidence map›Paper›PMID 29718878›Full record

ArticleMedicine2018

Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review.

Tae-Won Yang, Byeongsu Park, Keun Tae Kim, Jin-Sun Jun, Young-Soo Kim, Soon-Tae Lee, Keun-Hwa Jung, Kon Chu, Sang Kun Lee, Ki-Young Jung

Open access · goldAbstract readCase Reports
In one paragraph

Article in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 35% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 6 institutions in 3 countries.

Tae-Won YangDepartment of Neurology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine, Changwon Department of Neurology, Ulsan University Hospital, Ulsan Department of Neurology, Keimyung University Dongsan Medical Center Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu Department of Neurology, Gyeongsang National University Hospital, Gyeongsang National University College of Medicine, Jinju Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
Byeongsu Park
Keun Tae Kim
Jin-Sun Jun
Young-Soo Kim
Soon-Tae Lee
Keun-Hwa Jung
Kon Chu
Sang Kun Lee
Ki-Young Jung
Seoul National University Hospital · KRChangwon National University · KRKeimyung University Dongsan Medical Center · KRKyungpook National University Hospital · KRNational University College · PRUlsan University Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

rationaleFatal familial insomnia (FFI) is a human prion disease that is characterized by sleep-wake cycle deterioration, loss of slow-wave sleep, and motor overactivation over the daily 24-hour period. PATIENT CONCERNS: Here, we report the case of a 57-year-old man who had an irregular sleep-wake cycle and exhibited frequent movements and vocalizations during sleep. DIAGNOSES: Video-polysomnography showed disrupted sleep structure, rapid alternation between sleep stages, and an absence of sleep spindles and slow-wave sleep. Moreover, body movements persisted throughout the entire sleep period, including rapid eye movement (REM) sleep. The atonia index was very low (<0.025) during REM sleep. Genetic testing revealed a prion protein gene mutation at codon 178, and the patient was diagnosed with FFI.

interventionsWe tried to treat with amantadine, doxycycline, and immunotherapies, but the disease progressed. OUTCOMES: Sleep disturbance is the most frequent and essential symptom of FFI. LESSONS: FFI is difficult to diagnose due to the low sensitivity of diagnostic tools. Diagnoses can be further supported by better knowledge of typical polysomnographic findings.

Indexed as

AmantadineDiagnosis, DifferentialDisease ProgressionDopamine AgentsFatal OutcomeHumansHyperkinesisImmunotherapyInsomnia, Fatal FamilialMaleMedical History TakingMiddle AgedMutationPolysomnographyPrion ProteinsSleepAmantadineDopamine AgentsPrion Proteins

Identifiers

PMID29718878
PMCPMC6392909
OpenAlexW2800619994

What OpenQuestion holds

Textmetadata
LicenceCC BY-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.