Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy

Alexander Lossos; Dov Soffer; Bettina Steiner-Birmanns; Sharon Hassin-Baer; Menachem Sadeh; Michal Sagi; Eduard Linetski; Oded Abramsky; Zohar Argov; Hanna Rosenmann

doi:10.1159/000084299

Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy

Alexander Lossos^*, Dov Soffer, Bettina Steiner-Birmanns, Sharon Hassin-Baer, Menachem Sadeh, Michal Sagi, Eduard Linetski, Oded Abramsky, Zohar Argov, Hanna Rosenmann

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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.

Original language	English
Pages (from-to)	55-59
Number of pages	5
Journal	European Neurology
Volume	53
Issue number	2
DOIs	https://doi.org/10.1159/000084299
State	Published - 2005
Externally published	Yes

Keywords

Familial amyloid polyneuropathy
Transthyretin

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10.1159/000084299

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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.",

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AU - Lossos, Alexander

AU - Soffer, Dov

AU - Steiner-Birmanns, Bettina

AU - Hassin-Baer, Sharon

AU - Sadeh, Menachem

AU - Sagi, Michal

AU - Linetski, Eduard

AU - Abramsky, Oded

AU - Argov, Zohar

AU - Rosenmann, Hanna

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

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Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy

Abstract

Keywords

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