Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy.
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.
Lossos
Alexander
A
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Jerusalem, Israel. alos@hadassah.org.il
Soffer
Dov
D
Steiner-Birmanns
Bettina
B
Hassin-Baer
Sharon
S
Sadeh
Menachem
M
Sagi
Michal
M
Linetski
Eduard
E
Abramsky
Oded
O
Argov
Zohar
Z
Rosenmann
Hanna
H
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
D011228:Prealbumin