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A multicentric stud...
A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv) : insights for an earlier diagnosis
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- 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
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- 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
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- Olsson, Malin (författare)
- Umeå universitet,Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM),Avdelningen för medicin
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- Anan, Intissar (författare)
- Umeå universitet,Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM),Avdelningen för medicin
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- Mazzeo, Anna (författare)
- Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
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- Gentile, Luca (författare)
- Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
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- Cisneros-Barroso, Eugenia (författare)
- Research Health Institute of the Balearic Islands (IdISBa), Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain
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- Gonzalez-Moreno, Juan (författare)
- Research Health Institute of the Balearic Islands (IdISBa), Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain
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- Losada, Ines (författare)
- Research Health Institute of the Balearic Islands (IdISBa), Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain
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- Waddington-Cruz, Marcia (författare)
- CEPARM, Federal University of Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil
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- Pinto, Luiz Felipe (författare)
- CEPARM, Federal University of Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil
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- Parman, Yeşim (författare)
- Department of Neurology, Neuromuscular Unit Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
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- 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
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- Alarcon, Flora (författare)
- Laboratory MAP5 UMR CNRS 8145 Paris University, Paris, France
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- Nuel, Gregory (författare)
- Stochastics and Biology Group, Department of Probability and Statistics (LPSM, UMR CNRS 8001), Sorbonne University, Paris, France
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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.
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Ingår i: Amyloid. - : Taylor & Francis. - 1350-6129 .- 1744-2818. ; 30:3, s. 313-320
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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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
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Planté-Bordeneuv ...
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Gorram, Farida
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Olsson, Malin
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Anan, Intissar
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Mazzeo, Anna
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Gentile, Luca
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Cisneros-Barroso ...
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Gonzalez-Moreno, ...
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Losada, Ines
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Waddington-Cruz, ...
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Pinto, Luiz Feli ...
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Parman, Yeşim
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Fanen, Pascale
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Alarcon, Flora
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Nuel, Gregory
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