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Objective: Elucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI).

Methods: A worldwide large sample of FFI patients from our case series and literature review diagnosed by genetic testing were collected. The prevalence of clinical symptoms and genetic profile were obtained, and then the phenotypic comparison between Asians versus non-Asians and 129Met/Met versus 129Met/Val were conducted.

Results: In total, 131 cases were identified. The age of onset was 47.51±12.53 (range 17-76) years, 106 patients died and disease duration was 13.20±9.04 (range 2-48) months. Insomnia (87.0%) and rapidly progressive dementia (RPD; 83.2%) occurred with the highest frequency. Hypertension (33.6%) was considered to be an objective indicator of autonomic dysfunction. Genotype frequency at codon 129 was Met/Met (84.7%) and Met/Val (15.3%), and allele frequency was Met (92.4%) and Val (7.6%).129 Met was a risk factor (OR: 3.728, 95% CI: 2.194 to 6.333, p=0.000) for FFI in the non-Asian population. Comparison of Asians and non-Asians revealed clinical symptoms and genetic background to show some differences (p<0.05). In the comparison of 129 polymorphisms, a longer disease duration was found in the 129 MV group, with alleviation of some clinical symptoms (p<0.05). After considering survival probability, significant differences in survival time between genotypes remained (p<0.0001).

Conclusions: Insomnia, RPD and hypertension are representative key clinical presentations of FFI. Phenotypic variations in genotypes and geographic regions were documented. Prion protein gene 129 Met was considered to be a risk factor for FFI in the non-Asian population, and 129 polymorphisms could modify survival duration.

Competing Interests: Competing interests: None declared.

Titel:	Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.
Autor/in / Beteiligte Person:	Zhang, J ; Chu, M ; Tian, Z ; Xie, K ; Cui, Y ; Liu, L ; Meng, J ; Yan, H ; Ji, YM ; Jiang, Z ; Xia, TX ; Wang, D ; Wang, X ; Zhao, Y ; Ye, H ; Li, J ; Wang, L ; Wu, L
Zeitschrift:	Journal of neurology, neurosurgery, and psychiatry, Jg. 93 (2022-03-01), Heft 3, S. 291-297
Veröffentlichung:	London : BMJ Publishing Group ; <i>Original Publication</i>: London : British Medical Association, 2022
Medientyp:	academicJournal
ISSN:	1468-330X (electronic)
DOI:	10.1136/jnnp-2021-327247
Schlagwort:	Adolescent Adult Aged Female Humans Male Middle Aged Mutation Young Adult Genotype Insomnia, Fatal Familial genetics Phenotype Polymorphism, Single Nucleotide Prion Proteins genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't Language: English [J Neurol Neurosurg Psychiatry] 2022 Mar; Vol. 93 (3), pp. 291-297. <i>Date of Electronic Publication: </i>2021 Oct 19. MeSH Terms: Genotype* ; Phenotype* ; Polymorphism, Single Nucleotide* ; Insomnia, Fatal Familial / genetics ; Prion Proteins / genetics ; Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Young Adult References: Biomed Environ Sci. 2012 Aug;25(4):471-5. (PMID: 23026528) ; Lancet Neurol. 2003 Mar;2(3):167-76. (PMID: 12849238) ; Brain Res. 1997 Oct 10;771(1):154-8. (PMID: 9383019) ; Brain Pathol. 1998 Jul;8(3):515-20. (PMID: 9669701) ; Nature. 1991 Oct 31;353(6347):801-2. (PMID: 1682813) ; Acta Neuropathol. 2011 Jan;121(1):21-37. (PMID: 20978903) ; Mol Psychiatry. 2001 Jan;6(1):74-8. (PMID: 11244488) ; Eur J Hum Genet. 2001 Dec;9(12):965-8. (PMID: 11840201) ; J Sleep Res. 1999 Jun;8 Suppl 1:23-9. (PMID: 10389103) ; Cold Spring Harb Perspect Med. 2017 Nov 1;7(11):. (PMID: 28096244) ; Neurology. 1993 Dec;43(12):2565-9. (PMID: 8255458) ; Biochemistry. 2005 Dec 6;44(48):15880-8. (PMID: 16313190) ; Neurology. 1992 Jul;42(7 Suppl 6):28-33. (PMID: 1630636) ; N Engl J Med. 1986 Oct 16;315(16):997-1003. (PMID: 3762620) ; Neurology. 1992 Feb;42(2):312-9. (PMID: 1736158) ; Neuropsychiatr Dis Treat. 2018 Aug 14;14:2067-2085. (PMID: 30147320) ; Clin Auton Res. 1991 Mar;1(1):15-21. (PMID: 1821660) ; Sleep Med. 2017 Apr;32:280-281. (PMID: 28057496) ; Neurology. 1996 Apr;46(4):935-9. (PMID: 8780067) ; Handb Clin Neurol. 2011;99:981-96. (PMID: 21056239) ; Ann Neurol. 2008 May;63(5):658-61. (PMID: 18360821) ; J Neurol Neurosurg Psychiatry. 2000 Jun;68(6):774-7. (PMID: 10811705) ; Sci Rep. 2017 Jun 15;7(1):3625. (PMID: 28620158) ; J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):654-9. (PMID: 24249784) ; Science. 1992 Oct 30;258(5083):806-8. (PMID: 1439789) ; J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1491-6. (PMID: 16227536) ; J Neurol. 2009 Oct;256(10):1778-9. (PMID: 19526349) ; Infect Dis Poverty. 2016 Jun 02;5(1):47. (PMID: 27251305) ; Sleep Med Rev. 2005 Oct;9(5):339-53. (PMID: 16109494) ; Brain. 2006 Mar;129(Pt 3):668-75. (PMID: 16399807) ; Clin Lab Med. 2003 Mar;23(1):43-64. (PMID: 12733424) ; Lancet. 1999 May 15;353(9165):1673-4. (PMID: 10335789) ; PLoS Pathog. 2015 Apr 16;11(4):e1004796. (PMID: 25880443) ; Chin Med J (Engl). 2018 Jul 5;131(13):1613-1617. (PMID: 29941716) ; Eur J Nucl Med Mol Imaging. 2015 Sep;42(10):1522-9. (PMID: 26041084) Contributed Indexing: Keywords: clinical neurology; genetics; prion Substance Nomenclature: 0 (Prion Proteins) Entry Date(s): Date Created: 20211020 Date Completed: 20220228 Latest Revision: 20220316 Update Code: 20240513 PubMed Central ID: PMC8862016

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Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.