A fatal familial insomnia patient newly diagnosed as having depression: A case report.

INTRODUCTION: Fatal familial insomnia (FFI) is a rare clinical case. The study was mainly to report the clinical symptoms and imaging and genetic characteristics of a FFI case with depression, with relevant literature summarized. PATIENT CONCERNS: A male, aged 57 years old, with mental disorders and progressive memory decline one year before admission. DIAGNOSIS: Clinical manifestations: he had obvious abnormal mental behavior, rapidly progressing dementia symptoms, stubborn insomnia, abnormal movements and laryngeal stridor after falling asleep at night. Imaging and genetic test results: the cranial magnetic resonance imaging showed frontal temporal lobe atrophy; the polysomnography results showed no effective sleep; the 14-3-3 test result of cerebrospinal fluid was negative; the prion protein (PRNP) test showed that the D178N gene locus had mutations. And the patient was finally diagnosed as FFI. INTERVENTIONS: There were no obvious effects in the treatment using medicines such as Risperidone, Olanzapine, Alprazolam, Clonazepam, and Deanxit. OUTCOMES: Mobility dysfunction of the patient was further aggravated. He was no longer able to move around on his own, and there were serious mental disorders. CONCLUSION: PRNP examination is of guiding significance for the diagnosis of the FFI of depression. Hence, it is very necessary to perform PRNP examination in clinical diagnosis of FFI of depression.

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades. gPrDs are caused by mutations in the prion protein gene (PRNP), and have been historically classified based on their clinicopathological features as genetic Jakob-Creutzfeldt disease (gJCD), Gerstmann-Sträussler-Scheinker (GSS), or Fatal Familial Insomnia (FFI). Mutations in PRNP can be missense, nonsense, and octapeptide repeat insertions or a deletion, and present with diverse clinical features, sensitivities of ancillary testing, and neuropathological findings. We present the UCSF gPrD cohort, including 129 symptomatic patients referred to and/or seen at UCSF between 2001 and 2016, and compare the clinical features of the gPrDs from 22 mutations identified in our cohort with data from the literature, as well as perform a literature review on most other mutations not represented in our cohort. E200K is the most common mutation worldwide, is associated with gJCD, and was the most common in the UCSF cohort. Among the GSS-associated mutations, P102L is the most commonly reported and was also the most common at UCSF. We also had several octapeptide repeat insertions (OPRI), a rare nonsense mutation (Q160X), and three novel mutations (K194E, E200G, and A224V) in our UCSF cohort. © 2016 Wiley Periodicals, Inc.

Agrypnia excitata: current concepts and future prospects in management.

Agrypnia excitata is an extremely rare, life-threatening syndrome characterized by autonomic activation, persistent insomnia, and generalized overactivity. Agrypnia excitata describes a triad of three separate conditions: delirium tremens, Morvan's chorea, and familial fatal insomnia (FFI). Each of the aforementioned three conditions have sleep disturbances as a unifying theme and results in distinct neurophysiological findings. The following is an overview of agrypnia excitata with a particular emphasis placed upon each of the three individual conditions that constitute the syndrome with recommendations on appropriate management.

The behavioural features of fatal familial insomnia: A new Italian case with pathological verification.

We report a new, pathologically verified Italian case of fatal familial insomnia, whose clinical presentation was characterised by complex behavioural disturbances, suggesting wakefulness/NREM/REM combinations.

[Fatal familial insomnia--a rare differential diagnosis in dementia]. / Letale familiäre Insomnie--Eine seltene Differenzialdiagnose in der Demenzabklärung.

Fatal familial insomnia (FFI)--first reported in 1986--is a hereditary prion disease with autosomal-dominant inheritance, caused by a missense-mutation at codon 178 of the prion-protein gene (PRNP) on chromosome 20. A methionine-valine polymorphism at codon 129 of PRNP expresses different phenotypes. The clinical features of FFI are characterized by a disrupted sleep-wake cycle with resulting fluctuations of vigilance, autonomic hyperactivation, myoclonus, motor abnormalities and by cognitive disturbances. The age of onset is between middle to late adulthood (51 +/- 7.1 years), disease duration varies between 8 and 72 months (18.4 +/- 17.3 months) and is ultimately fatal. We report the case of a 57-year-old man with a diagnosed FFI by molecular-genetic investigation who suffered from increasing memory- and sleep-disturbance as well as physical restlessness and impotence for 9 months. Clinical features were motor symptoms, generalized myoclonus and hyperactivity with reduced attention and concentration. The neuropsychological findings were a severe disturbance of attention and memory as well as incipient deficits in executive functions. The cranial MRI and repeated EEG were normal; in detailed laboratory tests including CSF no abnormalities were detected. The clinical course was characterized by rapid decline of the motor and cognitive skills; the patient died 15 months after onset. Histological analysis showed the typical changes of FFI (spongiform changes at hippocampus and regio entorhinalis, severe gliosis in the thalamus and mild deposits of abnormal prion protein).

Self management of fatal familial insomnia. Part 1: what is FFI?

CONTEXT: Fatal familial insomnia (FFI) is a genetically transmitted neurodegenerative prion disease that incurs great suffering and has neither a treatment nor a cure. The clinical literature is devoid of management plans (other than palliative). Part 1 of this article reviews the sparse literature about FFI, including case descriptions. Part 2 of this paper describes the efforts of 1 patient (with the rapid-course Met-Met subtype) to contend with his devastating symptoms and improve the quality of his life. DESIGN: Interventions were based on the premise that some symptoms may be secondary to insomnia and not a direct result of the disease itself. Strategies (derived by trial and error) were devised to induce sleep and increase alertness. Interventions included vitamin supplementation, narcoleptics, anesthesia, stimulants, sensory deprivation, exercise, light entrainment, growth hormone, and electroconvulsive therapy. RESULTS: The patient exceeded the average survival time by nearly 1 year, and during this time (when most patients are totally incapacitated), he was able to write a book and to successfully drive hundreds of miles. CONCLUSION: Methods to induce sleep may extend and enhance life during the disease, although they do not prevent death. It is hoped that some of his methods might inspire further clinical studies.