SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:DiVA.org:umu-205361"
 

Sökning: onr:"swepub:oai:DiVA.org:umu-205361" > A multicentric stud...

A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv) : insights for an earlier diagnosis

Planté-Bordeneuve, Violaine (författare)
Department of Neurology, Henri Mondor University Hospital, APHP, Créteil, France; Paris Est-Créteil University, Créteil, France; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France
Gorram, Farida (författare)
Department of Neurology, Henri Mondor University Hospital, APHP, Créteil, France; Paris Est-Créteil University, Créteil, France; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France
Olsson, Malin (författare)
Umeå universitet,Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM),Avdelningen för medicin
visa fler...
Anan, Intissar (författare)
Umeå universitet,Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM),Avdelningen för medicin
Mazzeo, Anna (författare)
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
Gentile, Luca (författare)
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
Cisneros-Barroso, Eugenia (författare)
Research Health Institute of the Balearic Islands (IdISBa), Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain
Gonzalez-Moreno, Juan (författare)
Research Health Institute of the Balearic Islands (IdISBa), Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain
Losada, Ines (författare)
Research Health Institute of the Balearic Islands (IdISBa), Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain
Waddington-Cruz, Marcia (författare)
CEPARM, Federal University of Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil
Pinto, Luiz Felipe (författare)
CEPARM, Federal University of Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil
Parman, Yeşim (författare)
Department of Neurology, Neuromuscular Unit Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Fanen, Pascale (författare)
Paris Est-Créteil University, Créteil, France; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France; Department of Genetics, Henri Mondor University Hospital, APHP, Créteil, France
Alarcon, Flora (författare)
Laboratory MAP5 UMR CNRS 8145 Paris University, Paris, France
Nuel, Gregory (författare)
Stochastics and Biology Group, Department of Probability and Statistics (LPSM, UMR CNRS 8001), Sorbonne University, Paris, France
visa färre...
Department of Neurology, Henri Mondor University Hospital, APHP, Créteil, France; Paris Est-Créteil University, Créteil, France; Inserm U955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM) (creator_code:org_t)
2023-02-21
2023
Engelska.
Ingår i: Amyloid. - : Taylor & Francis. - 1350-6129 .- 1744-2818. ; 30:3, s. 313-320
Relaterad länk:
https://urn.kb.se/re...
visa fler...
https://doi.org/10.1...
visa färre...
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Background: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease’risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation. Methods: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil. Penetrance was computed using a non-parametric survival method. Results: We analysed 258 TTRV30M kindreds and 84 carrying six other variants (TTRT49A, F64L, S77Y, S77F, E89Q, I107V). In ATTRV30M families, the earliest disease risk was found at age 20 years in the Portuguese and Mallorcan families and at age 30-35 years, in the French and Swedish groups. The risks were higher in men and in carriers of maternal descent. In families carrying TTR-nonV30M variants, the earliest disease risk ranged from 30 y-o in TTRT49A to 55 y-o in TTRI107V families. Peripheral neuropathy symptoms were the most frequent initial manifestations. Among patients carrying TTRnonV30M variants, about 25% had an initial cardiac phenotype, one third a mixed phenotype. Conclusion: Our work provided solid data on the risks and early features of ATTRv in a spectrum of families to enhance an early diagnosis and treatment.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Nyckelord

amyloid polyneuropathy
Genetics
penetrance
peripheral neuropathy
transthyretin

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

Hitta via bibliotek

  • Amyloid (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy