ArticleMedicine2017
Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study.NeuroImage. Clinical · 2022Article
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia.Prion · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleFatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. Here, we describe a Han Chinese patient with FFI who exhibited agrypnia excitata and obstructive apnea. PATIENT CONCERNS: A 46-year-old man displayed involuntary movements during sleep time, snoring, autonomic nervous system dysfunction, cognitive deficit, brainstem symptoms, myoclonus and ataxia in order within 8 months. The electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) revealed abnormal changes but without the typical prion disease signs. DIAGNOSES: After the conduction of Polysomnogram (PSG) and gene detection of PRNP, the patient was diagnosed as FFI. Three others exhibiting the same clinical manifestations were observed in the large family.
interventionsThe patient responded temporally well to drugs that strengthening the function of mitochondria. OUTCOMES: Sudden death occurred after 3 month ever since the diagnoses. The total disease course was 11 months. LESSONS: The insomnia in FFI is complex, agrypnia excitata and obstructive apnea can also be indicators for FFI. Polysomnogram is necessary for recognizing the sleep loss when the symptom of insomia is not typical. Improving energy metabolism may be a potential treatment for it.
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