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Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations
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Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

Author: Franc Llorens Affiliation: Department of Neurology, Clinical Dementia Center, University Medical Center, Georg-August University, Robert Koch Strasse 40, Göttingen, Germany, +495513914962; Juan-José Zarranz Affiliation: Neurology Department, University Hospital Cruces, University of the Basque Country, Bilbao, Bizkaia, Spain; Andre Fischer Affiliation: German Center for Neurodegenerative Diseases (DZNE)-site Göttingen, Göttingen, Germany; Inga Zerr Affiliation: Department of Neurology, Clinical Dementia Center, University Medical Center, Georg-August University, Robert Koch Strasse 40, Göttingen, Germany; Isidro Ferrer Affiliation: Institute of Neuropathology, Bellvitge University Hospital-IDIBELL, L’Hospitalet de Llobregat, c/Feixa Llarga sn, Barcelona, 08907, Spain, +34934035808
Edition/Format: Article Article : English
Publication:Current Neurology and Neuroscience Reports, v17 n4 (201704): 1-7
Summary:
Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression. This article reviews recent research on the clinical and molecular aspects of the disease.
New clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. In addition, the generation of mouse models, the availability of ‘omics’ data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery.
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.  Read more...
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Document Type: Article
All Authors / Contributors: Franc Llorens Affiliation: Department of Neurology, Clinical Dementia Center, University Medical Center, Georg-August University, Robert Koch Strasse 40, Göttingen, Germany, +495513914962; Juan-José Zarranz Affiliation: Neurology Department, University Hospital Cruces, University of the Basque Country, Bilbao, Bizkaia, Spain; Andre Fischer Affiliation: German Center for Neurodegenerative Diseases (DZNE)-site Göttingen, Göttingen, Germany; Inga Zerr Affiliation: Department of Neurology, Clinical Dementia Center, University Medical Center, Georg-August University, Robert Koch Strasse 40, Göttingen, Germany; Isidro Ferrer Affiliation: Institute of Neuropathology, Bellvitge University Hospital-IDIBELL, L’Hospitalet de Llobregat, c/Feixa Llarga sn, Barcelona, 08907, Spain, +34934035808
ISSN:1528-4042
Language Note: English
Unique Identifier: 6994559043
Notes: This article is part of the Topical Collection on Sleep
Acknowledgements: This study was supported by the EU joint programme-Neurodegenerative Disease Research (JPND-DEMTEST: biomarker based diagnosis of rapidly progressive dementias-optimization of diagnostic protocols, 01ED1201A) and the Robert Koch Institute thought (NRZ 1369-341) to IZ, by German Center for Neurodegenerative Diseases (DZNE) funds to AF, and by the Red Nacional de Priones (AGL2015-71764-REDT- MINECO) to FL, IZ and IF. We wish to thank T. Yohannan for editorial assistance.
Awards:

Abstract:

Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression. This article reviews recent research on the clinical and molecular aspects of the disease.
New clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. In addition, the generation of mouse models, the availability of ‘omics’ data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery.
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.

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New clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. In addition, the generation of mouse models, the availability of ‘omics’ data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery.
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.
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