title: Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy.
abstract: The transthyretin Tyr77 variant of familial amyloid polyneuropathy (FAP) has been identified in a few North American and European patients, but the full spectrum of its clinical manifestations is still not known. We report a 3-generation family of Jewish-Yemenite origin with Tyr77 FAP presenting with atypical features. The affected individuals had sensorimotor and autonomic neuropathy and cardiomyopathy accompanied by prominent dysphagia, hearing loss and asymptomatic carpal tunnel syndrome. Brain MRI in the proband showed multifocal white matter lesions. These features extend the reported Tyr77 phenotype and support the modifying effect of additional factors on the disease expression.
authors.affiliation: Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Jerusalem, Israel. alos@hadassah.org.il
authors.forename: Alexander
authors.initials: A
authors.lastname: Lossos
authors.forename: Dov
authors.initials: D
authors.lastname: Soffer
authors.forename: Bettina
authors.initials: B
authors.lastname: Steiner-Birmanns
authors.forename: Sharon
authors.initials: S
authors.lastname: Hassin-Baer
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.forename: Michal
authors.initials: M
authors.lastname: Sagi
authors.forename: Eduard
authors.initials: E
authors.lastname: Linetski
authors.forename: Oded
authors.initials: O
authors.lastname: Abramsky
authors.forename: Zohar
authors.initials: Z
authors.lastname: Argov
authors.forename: Hanna
authors.initials: H
authors.lastname: Rosenmann
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
chemical_list: D011228:Prealbumin