Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy

摘要: The transthyretin Tyr77 variant of familial amyloid polyneuropathy (FAP) has been identified in a few North American and European patients, but the full spectrum its clinical manifestations is still not known. We report 3-generation family Jewish-Yemenite origin with FAP presenting atypical features. affected individuals had sensorimotor autonomic neuropathy cardiomyopathy accompanied by prominent dysphagia, hearing loss asymptomatic carpal tunnel syndrome. Brain MRI proband showed multifocal white matter lesions. These features extend reported phenotype support modifying effect additional factors on disease expression.