Carpal Tunnel Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Carpal Tunnel Syndrome, including details on symptoms, causes, trauma, diagnosis, physiotherapy.

Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.

Motozaki Y, Sugiyama Y, Ishida C, Komai K, Matsubara S, Yamada M

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa 920-8641, Japan. yukokato@med.kanazawa-u.ac.jp

A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autopsy demonstrated massive amyloid deposition in the peripheral nerves and heart. However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype.

Published 13 August 2007 in J Neurol Sci, 260(1): 236-9.
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