Amyloid Neuropathies, Familial

"Amyloid Neuropathies, Familial" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.

Descriptor ID	D028227
MeSH Number(s)	C10.574.500.050 C10.668.829.050.050 C16.320.400.050 C16.320.565.176.050 C18.452.648.176.050 C18.452.845.500.050.050 C18.452.845.500.075.050
Concept/Terms	Amyloid Neuropathies, Familial Amyloid Neuropathies, Familial Amyloid Neuropathy, Familial Familial Amyloid Neuropathies Familial Amyloid Neuropathy Neuropathies, Familial Amyloid Neuropathy, Familial Amyloid Hereditary Neuropathic Amyloidosis Amyloidoses, Hereditary Neuropathic Amyloidosis, Hereditary Neuropathic Hereditary Neuropathic Amyloidoses Neuropathic Amyloidoses, Hereditary Neuropathic Amyloidosis, Hereditary Familial Amyloid Polyneuropathies Amyloid Polyneuropathies, Familial Amyloid Polyneuropathy, Familial Familial Amyloid Polyneuropathy Polyneuropathies, Familial Amyloid Polyneuropathy, Familial Amyloid Familial Amyloid Polyneuropathy, Type VI Familial Amyloid Polyneuropathy, Type VI Type VI Familial Amyloid Polyneuropathy Amyloid Polyneuropathy, British Type Amyloid Polyneuropathy, British Type Type III Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy, Type III Iowa Type Amyloid Polyneuropathy Amyloid Polyneuropathy, Iowa Type British Type Amyloid Polyneuropathy Familial Amyloid Polyneuropathy, Type IV Familial Amyloid Polyneuropathy, Type IV Type IV Familial Amyloid Polyneuropathy Familial Amyloid Neuropathy, Portuguese Type Familial Amyloid Neuropathy, Portuguese Type Familial Amyloid Neuropathy, Andrade Type Familial Amyloid Polyneuropathy, Type I Familial Portuguese Polyneuritic Amyloidosis Wohlwill-Corino Andrade Syndrome Syndrome, Wohlwill-Corino Andrade Wohlwill Corino Andrade Syndrome Polyneuritic Amyloidosis, Portuguese Amyloidoses, Portuguese Polyneuritic Amyloidosis, Portuguese Polyneuritic Polyneuritic Amyloidoses, Portuguese Portuguese Polyneuritic Amyloidoses Portuguese Polyneuritic Amyloidosis Portuguese Type Familial Amyloid Neuropathy Type I Familial Amyloid Polyneuropathy Wohlwill-Andrade Syndrome Syndrome, Wohlwill-Andrade Wohlwill Andrade Syndrome Amyloid Neuropathy Type 1 Neuropathic Amyloid Syndrome Amyloid Syndrome, Neuropathic Amyloid Syndromes, Neuropathic Neuropathic Amyloid Syndromes Syndrome, Neuropathic Amyloid Syndromes, Neuropathic Amyloid Familial Amyloid Polyneuropathy, Appalachian Type Familial Amyloid Polyneuropathy, Appalachian Type Appalachian Type Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy, Jewish Type Familial Amyloid Polyneuropathy, Jewish Type Jewish Type Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy, Type V Familial Amyloid Polyneuropathy, Type V Finnish Type Familial Amyloid Neuropathy Type V Familial Amyloid Polyneuropathy Familial Amyloid Neuropathy, Finnish Type Amyloid Polyneuropathy, Swiss Type Amyloid Polyneuropathy, Swiss Type Swiss Type Amyloid Polyneuropathy Type II Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy, Type II

Below are MeSH descriptors whose meaning is more general than "Amyloid Neuropathies, Familial".

Diseases [C]
Nervous System Diseases [C10]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Amyloid Neuropathies, Familial [C10.574.500.050]
Neuromuscular Diseases [C10.668]
Peripheral Nervous System Diseases [C10.668.829]
Amyloid Neuropathies [C10.668.829.050]
Amyloid Neuropathies, Familial [C10.668.829.050.050]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Amyloid Neuropathies, Familial [C16.320.400.050]
Metabolism, Inborn Errors [C16.320.565]
Amyloidosis, Familial [C16.320.565.176]
Amyloid Neuropathies, Familial [C16.320.565.176.050]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amyloidosis, Familial [C18.452.648.176]
Amyloid Neuropathies, Familial [C18.452.648.176.050]
Proteostasis Deficiencies [C18.452.845]
Amyloidosis [C18.452.845.500]
Amyloid Neuropathies [C18.452.845.500.050]
Amyloid Neuropathies, Familial [C18.452.845.500.050.050]
Amyloidosis, Familial [C18.452.845.500.075]
Amyloid Neuropathies, Familial [C18.452.845.500.075.050]

Below are MeSH descriptors whose meaning is related to "Amyloid Neuropathies, Familial".

Below are MeSH descriptors whose meaning is more specific than "Amyloid Neuropathies, Familial".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Amyloid Neuropathies, Familial" by people in this website by year, and whether "Amyloid Neuropathies, Familial" was a major or minor topic of these publications.

Bar chart showing 11 publications over 9 distinct years, with a maximum of 3 publications in 2022

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2008	1	0	1
2010	1	0	1
2013	0	1	1
2014	1	0	1
2020	1	0	1
2021	1	0	1
2022	3	0	3
2023	1	0	1
2024	1	0	1

Below are the most recent publications written about "Amyloid Neuropathies, Familial" by people in Profiles.

Fontana M, Berk JL, Gillmore JD, Witteles RM, Grogan M, Drachman B, Damy T, Garcia-Pavia P, Taubel J, Solomon SD, Sheikh FH, Tahara N, Gonz?lez-Costello J, Tsujita K, Morbach C, Pozsonyi Z, Petrie MC, Delgado D, Van der Meer P, Jabbour A, Bondue A, Kim D, Azevedo O, Hvitfeldt Poulsen S, Yilmaz A, Jankowska EA, Algalarrondo V, Slugg A, Garg PP, Boyle KL, Yureneva E, Silliman N, Yang L, Chen J, Eraly SA, Vest J, Maurer MS. Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy. N Engl J Med. 2025 Jan 02; 392(1):33-44.

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Ghoneem A, Bhatti AW, Khadke S, Mitchell J, Liu J, Zhang K, Trachtenberg B, Wechalekar A, Cheng RK, Baron SJ, Nohria A, Lenihan D, Ganatra S, Dani SS. Real-World Efficacy of Tafamidis in Patients With Transthyretin Amyloidosis and Heart Failure. Curr Probl Cardiol. 2023 Jun; 48(6):101667.

View in: PubMed
Rowin EJ, Ruberg FL, Das G, Higgins D, Lipe WC, Bokhari N, Dehn M, Maron BJ, Maron MS. Identification of Transthyretin Cardiac Amyloidosis Among Patients Previously Diagnosed With Hypertrophic Cardiomyopathy. Circ Cardiovasc Imaging. 2022 12; 15(12):e014938.

View in: PubMed
Prokaeva T, Klimtchuk ES, Feschenko P, Spencer B, Cui H, Burks EJ, Aslebagh R, Muneeruddin K, Shaffer SA, Varghese E, Berk JL, Connors LH. An additive destabilising effect of compound T60I and V122I substitutions in ATTRv amyloidosis. Amyloid. 2023 Jun; 30(2):141-152.

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Kaku MC, Bhadola S, Berk JL, Sanchorawala V, Connors LH, Lau KHV. Neurological manifestations of hereditary transthyretin amyloidosis: a focus on diagnostic delays. Amyloid. 2022 Sep; 29(3):184-189.

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Maron BJ, Maron MS, Maurer MS, Rowin EJ, Maron BA, Gali? N. Cardiovascular Diseases That Have Emerged From the Darkness. J Am Heart Assoc. 2021 10 19; 10(20):e021095.

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Gurwitz JH, Maurer MS. Initial Monthly Cost of Tafamidis-the Real Price for Patients-Reply. JAMA Cardiol. 2020 07 01; 5(7):848.

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Batista AR, Gianni D, Ventosa M, Coelho AV, Almeida MR, Sena-Esteves M, Saraiva MJ. Gene therapy approach to FAP: in vivo influence of T119M in TTR deposition in a transgenic V30M mouse model. Gene Ther. 2014 Dec; 21(12):1041-50.

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Batista AR, Sena-Esteves M, Saraiva MJ. Hepatic production of transthyretin L12P leads to intracellular lysosomal aggregates in a new somatic transgenic mouse model. Biochim Biophys Acta. 2013 Aug; 1832(8):1183-93.

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Tanaka K, Essick EE, Doros G, Tanriverdi K, Connors LH, Seldin DC, Sam F. Circulating matrix metalloproteinases and tissue inhibitors of metalloproteinases in cardiac amyloidosis. J Am Heart Assoc. 2013 Mar 12; 2(2):e005868.

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