The importance of TTR met 30 in the diagnosis of familial amyloidotic polyneuropathy in the absence of a positive family history;Importancia de la TTR met 30 en el diagnostico de la polineuropatia amiloidotica familiar sin antecedentes familiares

Revista de Neurologia

Volumn 30, Issue 10, 2000, Pages 929-931

  Santos, M ^a   Dias, L ^a   Esperanca P ^a  

^a HOSPITAL DE SÃO JOSÉ   (Portugal)

Author keywords

Amyloid Familial amyloidotic polineuropathy; Transthyretin; TTR met 30

Indexed keywords

AMYLOID; PREALBUMIN;

ADULT; AMYLOID NEUROPATHY; ARTICLE; CASE REPORT; CLINICAL FEATURE; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; HUMAN; HUMAN TISSUE; MALE; NERVE BIOPSY; PORTUGAL;

EID: 0034673891     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3010.99277     Document Type: Article

References (16)

1. Murakami T, Uchino M, Ando M. Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy. Pathol Int 1995; 45: 1-9.
2. Andrade C. A peculiar form of peripheral neuropathy. Brain 1952; 75: 408-27.
3. Saraiva MJM. Transthyretin mutations in health and disease. Human Mutat 1995; 5: 191-6.
4. Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid. Int J Exp Clin Invest 1996; 3: 44-56.
5. Coelho T, Sousa A, Lourenço E, Ramalheira J. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet 1994; 31: 293-9.
6. Coelho T. Familial amyloid polineuropathy: new developments in genetics and treatment. Curr Opin Neurol 1996; 9: 355-9.
7. Saraiva MJM, Costa PP, Goodman W. Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type; family studies on the transthyretin(prealbumin)-methionine-30 variant. J Clin Invest 1985; 76: 2171-7.
8. Sequeiros J, Saraiva MJM. Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR met 30 mutation in hereditary amyloid neuropathy type I (Portuguese, Andrade). Am J Med Genet 1987; 27: 345-57.
9. Freitas AF, Maciel L. Manifestações cardiovasculares na polineuropatia amiloidótica familiar (tipo Andrade). Bol Hospital de Santo António do Porto 1988; 3: 89-96.
10. Carvalho F, Amaro M, Galvão M, et al. Abdominal fat aspirative biopsy. Diagnostic value in familial amyloidotic polyneuropathy, Portuguese type [Abstract]. 3rd International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Related Disorders. Lisboa, 1995.
11. Coutinho P, Ribeiro I. A forma tardia da polineuropatia amiloidótica familiar. Bol Hospital de Santo António do Porto 1988; 3: 57-62.
12. Costa PP, Saraiva MJM. Familial amyloidotic polyneuropathy: screening of the population at risk in Portugal. In Isobe T, Araki A, Uchino F, Kito S, Tsuburae E, eds. Amyloid and amyloidosis. New York: Plenum Press; 1988. p. 425-8.
13. Sales-Luis ML, Alves MM, Serrão R, et al. Estudos electroneurofisiológicos em familiares de doentes com polineuropatia amiloidótica familiar (PAF). Correlação com a presença de transtirretina anormal (Afp). Bol Hospital de Santo António do Porto 1988; 3: 103-7.
14. Sousa A, Lobato L, Sequeiros J. Início tardio da neuropatia amiloidótica hereditária tipo I (Português, Andrade). Variação familiar e modelos genéticos. Bol Hospital de Santo António do Porto 1988; 3: 63-9.
15. Guilherme A, Cardoso M, Barandela T, et al. Descrição da primeira família Portuguesa com polineuropatia amiloidótica familiar associada a uma mutação da transtirretina diferente da clássica transtirretina metionina 30 [Abstract]. Reunião da Sociedade Portuguesa de Neurologia. Lisboa, 1997.
16. Coelho T, Chorão R, Sousa A, et al. Apresentação clínica benigna em casos de polineuropatia amiloidótica familiar com duas mutações da transtirretina [Abstract]. Reunião da Sociedade Portuguesa de Neurologia. Coimbra, 1995.