Familial and sporadic fatal insomnia

@article{Montagna2003FamilialAS,
  title={Familial and sporadic fatal insomnia},
  author={Pasquale Montagna and Pierluigi Gambetti and Pietro Cortelli and Elio Lugaresi},
  journal={The Lancet Neurology},
  year={2003},
  volume={2},
  pages={167-176}
}

[Fatal familial insomnia--a rare differential diagnosis in dementia].

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 is reported, and the patient died 15 months after onset.

Identification of new molecular alterations in fatal familial insomnia.

The present findings unveil particular neuropathological and neuroinflammatory profiles in FFI and novel characteristics of natural prion protein in F FI, altered PrPres and Scrapie PrP (abnormal and pathogenic PrP) patterns and region-dependent putative capacity of PrP seeding.

Clinical/Scientific Notes

The first Brazilian patient with molecularly proven FFI is described, presenting with an atypical phenotype comprising complex movement disorders and erratic ocular movements, and a discussion on the phenomenology, genetic features, and possible pathophysiologic mechanisms involved is provided.

Fatal familial insomnia: a model disease in sleep physiopathology.

  • P. Montagna
  • Biology, Psychology
    Sleep medicine reviews
  • 2005

Fatal Familial Insomnia

The earliest description of the disease dates back to 1765 with a report of an Italian gentleman having symptoms suggestive of FFI, and was formally identified and clinically described in 1986 by Lugaresi E. et al.

Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

Although the development of a therapy is still a major challenge, recent findings represent a step toward understanding of the clinical and molecular aspects of FFI.

A case of fatal familial insomnia in Africa

A 45-year-old man, born in Morocco (Greater Casablanca region), was admitted after a five-month history of diplopia, and worsening unsteady gait, which were consistent with previous reports on FFI.

SPORADIC FATAL INSOMNIA IN A FATAL FAMILIAL INSOMNIA PEDIGREE

Here it is described the co-occurrence of both sporadic and genetic forms of FI within the sporadic TSE subtypes, which is not expected given their rarity and supposedly distinct etiology.
...

References

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A subtype of sporadic prion disease mimicking fatal familial insomnia

This condition is likely to represent the sporadic form of FFI and the term “sporadic fatal insomnia” is proposed.

Fatal familial insomnia with a mutation at codon 178 of the prion protein gene

The clinical and postmortem findings as well as genomic analysis in a first non-Western case with FFI implies a worldwide distribution of FFI and also highlights the need for more aggressive clinical application of genomic analysis of the PrP gene and polysomnographic study in patients with insomnia and cognitive impairments.

Clinical Features of Fatal Familial Insomnia: Phenotypic Variability in Relation to a Polymorphism at Codon 129 of the Prion Protein Gene

The data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein‐gene.

Fatal familial insomnia

Clinopathologic correlations indicate that FFI is associated with a neuropsychological and behavioral syndrome that is distinct from the cortical and subcortical dementias, and Wernicke-Korsakoff syndrome.

Clinical and genetic studies of fatal familial insomnia

Endocrine studies showed that a circadian modulation of hormonal levels could be maintained despite a near-total absence of sleep, and Administration of gamma-hydroxybutyrate induced a remarkable increase in slow-wave sleep.

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.

Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation.

Fatal familial insomnia

Although homozygous for methionine at codon 129, this patient showed some clinical and pathologic features most commonly found in heterozygotes, and was diagnosed with FFI from a new Italian kindred.

Fatal familial insomnia: a new Austrian family.

Clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia are presented, including widespread cortical astrogliosis, widespread brainstem nuclei and tract degeneration, and olivary 'pseudohypertrophy' with vacuolated neurons, in addition to neuropathological features described previously.

Molecular Pathology of Fatal Familial Insomnia

Two protease resistant fragments of the pathogenic PrP (PrPres), which differ in molecular mass, are associated with FFI and CJD178, respectively, suggesting that the two PrPres have different conformations and hence they produce different disease phenotypes.

First experimental transmission of fatal familial insomnia

The successful transmission of the fatal familial insomnia to experimental animals is reported, placing FFI within the group of infectious cerebral amyloidoses.
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