Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

Elizabeth B. Haagsma Department of Gastroenterology and Hepatology, University Hospital, Groningen, The NetherlandsCorrespondence[email protected]

Hans Scheffer Department of Medical Genetics, University Hospital, Groningen, The Netherlands

Klaus Altland Institute of Human Genetics, Justus-Liebig-University, Giessen, Germany

Aeiko E. J. De Jager Department of Neurology, University Hospital, Groningen, The Netherlands

Bouke P.C. Hazenberg Department of Rheumatology, University Hospital, Groningen, The Netherlands

Abstract

A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation VaUlAla is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities.

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Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

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Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

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