Fatal Familial Insomnia

Description

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

Clinical Features

Top most frequent phenotypes and symptoms related to Fatal Familial Insomnia

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension
  • Dysarthria
  • Fever
  • Tremor
  • Fatigue
  • Dysphagia

And another 44 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Fatal Familial Insomnia Is also known as insomnia, fatal familial.

Researches and researchers

Doctors, researchs, and experts related to Fatal Familial Insomnia extracted from public data.

Fatal Familial Insomnia Experts map



Current Researchs and researchers

  • MILANO — Dr Roberto CHIESA

    Investigator of research project

    • Institution/s:
      — Dulbecco Telethon Institute, Istituto di Ricerche Farmacologiche "Mario Negri"
    • Research area/topic::

      A new exploitation of a tetracationic-porphyrin able to reduce PrPC and to inhibit PrPSc replication: characterization of the mechanism of action and preclinical studies in mouse models of genetic prion disease


  • MILANO — Dr Gianluigi FORLONI

    Investigator of research project

    • Institution/s:
      — Dulbecco Telethon Institute, Istituto di Ricerche Farmacologiche "Mario Negri"
    • Research area/topic::

      Fatal familial insomnia: preventive treatment with doxycycline of at risk individuals


  • SANTIAGO DE COMPOSTELA — Dr Jesús RODRÍGUEZ REQUENA

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — CiMUS - Centro de Investigación en Medicina Molecular y Enfermedades Crónicas
    • Research area/topic::

      CHAPRION: Pharmacological chaperones for genetic prion diseases - ES


  • EDINBURGH — Ms Jan MACKENZIE

    Coordinator of research network

    • Institution/s:
      — Western General Hospital
    • Research area/topic::

      EUROCJD surveillance network: the European and allied countries collaborative study group of Creutzfeldt-Jakob diseases



Mendelian

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Fatal Familial Insomnia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Genetic Prion Diseases.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation (United States).

PRNP
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
PRNP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PRNP
Specificity
100 %
Genes
100 %
PRNP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PRNP
Specificity
100 %
Genes
100 %
Familial Creutzfeldt-Jakob Disease (sequence analysis of PRNP gene).

By CGC Genetics (Portugal).

PRNP
Specificity
100 %
Genes
100 %

We have 41 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOWNES-BROCKS SYNDROME 2; TBS2 RECESSIVE X-LINKED ICHTHYOSIS GASTRIC CANCER HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP

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