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Polineuropatía amiloidótica familiar tipo I: Report of one case

2003; Q16635223; Volume: 131; Issue: 10 Linguagem: Inglês

10.4067/s0034-98872003001000012

0717-6163

Carlos Guevara, Nelson Barrientos U, Alex Flores R, Juan Idiáquez C,

Alzheimer's disease research and treatments

Familial amyloidotic polyneuropathy type I is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The abnormality usually lies in the transthyretin (TTR) gene. We report a 25 years old man with 18 months history of dysesthesias and pain in the toes, abnormal micturition and sexual dysfunction. Neurophysiologically studies disclosed a sensory-motor axonal polyneuropathy. Autonomic tests showed sympathetic and parasympathetic involvement. An electron micrograph of sural nerve revealed amyloid fibrils in the endoneurium. His mother died after a clinical history suggestive, in retrospect, of familial amyloidotic polyneuropathy type I. The clinical and genetic analysis of this cause of polyneuropathy are discussed.