Fatal Familial Insomnia

Common Name(s)

Fatal Familial Insomnia

Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system.  Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible.
 

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Condition Specific Organizations

Following organizations serve the condition "Fatal Familial Insomnia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fatal Familial Insomnia" returned 19 free, full-text research articles on human participants. First 3 results:

Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report.
 

Author(s): Congcong Sun, Wen Xia, Ying Liu, Guoyong Jia, Cuilan Wang, Chuanzhu Yan, Yi Li

Journal: Medicine (Baltimore). 2017 Dec;96(49):e8951.

 

Fatal 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.

Last Updated: 31 Dec 1969

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Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature.
 

Author(s): Bin Peng, Shenqi Zhang, Hongjuan Dong, Zuneng Lu

Journal:

 

To explore clinical, histopathological and genetic features of a case with fatal familial insomnia (FFI) and review the related literatures. A middle-aged woman who complained of "insomnia for 9 months and psychosis for 3 months" was suspicious of FFI. The clinical features of the ...

Last Updated: 31 Dec 1969

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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.
 

Author(s): Lin Sun, Xia Li, Xiang Lin, Feng Yan, Kathryn Chen, Shifu Xiao

Journal: Prion. 2015 ;9(3):228-35.

 

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) ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fatal Familial Insomnia" returned 2 free, full-text review articles on human participants. First 3 results:

Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review.
 

Author(s): Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu

Journal:

 

Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with ...

Last Updated: 31 Dec 1969

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

Author(s): Joyce Schenkein, Pasquale Montagna

Journal:

 

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 ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Characterization of Movement Disorders and Dementias
 

Status: Recruiting

Condition Summary: Ataxia; Dystonia; Parkinson's Disease; Amyotrophic Lateral Sclerosis; Corticobasal Degeneration; Multiple System Atrophy; Alzheimer's Disease; Lewy Body Dementia; Parkinson Disease-Dementia; Dentatorubral-pallidoluysian Atrophy; Creutzfeldt-Jakob Disease and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbe's Disease; Niemann-Pick Disease, Type C; Neuronal Ceroid Lipofuscinosis

 

Last Updated: 24 Apr 2018

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