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      Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy

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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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          Transthyretin amyloidosis: a new mutation associated with dementia.

          H Goren, P Gambetti, Sue M. Estes … (1997)
          Familial transthyretin (TTR) amyloidosis commonly presents with peripheral neuropathy and involvement of visceral organs. In contrast, signs of central nervous system (CNS) involvement are exceptional. We report that members of a kindred affected by a slowly progressive dementia, seizures, ataxia, hemiparesis, and decreased vision without neuropathy have TTR amyloid deposits in the leptomeninges, the brain parenchyma, and the eye. This condition, previously labeled oculoleptomeningeal amyloidosis, is linked to a mutation at codon 30 of TTR gene, resulting in the substitution of valine with glycine in this family, TTR amyloid deposits were present in the leptomeninges, especially the leptomeningeal vessels, and in the subependymal regions of the ventricular system where they disrupted the ependymal lining and resulted in amyloid-glial formations protruding into and narrowing the ventricular system. Hydrocephalus and atrophy and infarction of cerebral and cerebellar cortexes were also present. Review of the literature shows that amyloid deposition in the leptomeninges is not uncommon in TTR amyloidoses clinically characterized by peripheral neuropathy and lack of CNS signs. The present kindred, which presented exclusively with signs of CNS involvement, expands the phenotype of TTR amyloidosis and raises questions concerning the mechanisms determining phenotypic expression in TTR familial amyloidosis.
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            Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.

            Johannes Koeppen, J Donat, Ryan J. Uitti … (1999)
            A Canadian family with oculoleptomeningeal amyloidosis with both central and peripheral nervous system disorders was described in 1988. Death of affected family members resulted from recurrent cerebral hemorrhage. To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin). DNA isolated from peripheral blood and archival tissues of affected members of the kindred was studied by direct DNA sequencing and restriction fragment length polymorphism analysis. Direct DNA sequencing identified a thymine-to-cytosine transition at the second base of codon 64, which resulted in a replacement of serine for phenylalanine. This mutation, which creates an additional HinfI site was detected by restriction fragment length polymorphism analysis in each affected individual. In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser).
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              Familial oculoleptomeningeal amyloidosis.

              H Goren, G H Farboody, Ryan M. Steinberg (1980)
              Members of a German family living in Ohio (United States) have been found to have dominantly inherited amyloidosis causing dementia, seizures, strokes, coma and visual deterioration. Pathological examination of affected individuals has shown severe, diffuse amyloidosis of the leptomeninges and subarachnoid vessels associated with patchy fibrosis and obliteration of the subarachnoid space. Amyloid deposits were prominent on the ependymal surfaces and severe and diffuse neuronal loss and generalized subpial gliosis were found in the cerebrum and cerebellum. On occasion superficial brain infarcts were seen. Amyloid was also found in the vitreous, the retinal internal limiting membrane and the retinal vessels, particularly those in the nerve fibre layer. There was only minimal amyloid elsewhere.
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                Author and article information

                Journal
                Journal ID (publisher-id): ENE
                Journal ID (nlm-ta): Eur Neurol
                Journal ID (doi): 10.1159/issn.0014-3022
                Title: European Neurology
                Publisher: S. Karger AG
                ISSN (Print): 0014-3022
                ISSN (Electronic): 1421-9913
                Publication date Subscription-year: 2005
                Publication date (Print): May 2005
                Publication date (Electronic): 23 May 2005
                Volume: 53
                Issue: 2
                Pages: 55-59
                Affiliations
                aDepartment of Neurology, Agnes Ginges Center for Human Neurogenetics, and Departments of bPathology and cMedical Genetics, Hadassah-Hebrew University Hospital, Jerusalem, dDepartment of Neurology, Chaim Sheba Medical Center, Tel-Hashomer, and eDepartment of Neurology, Wolfson Medical Center, Holon, Israel
                Article
                Publisher ID: 84299 Other ID: Eur Neurol 2005;53:55–59
                DOI: 10.1159/000084299
                PubMed ID: 15753613
                SO-VID: 928c43c6-4a45-4c57-847c-68c5faaf1e7a
                Copyright © © 2005 S. Karger AG, Basel
                License:

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Date received : 14 May 2004
                Date accepted : 18 November 2004
                Page count
                Figures: 2, References: 29, Pages: 5
                Categories
                Subject: Original Paper

                ScienceOpen disciplines: Geriatric medicine,Neurology,Cardiovascular Medicine,Neurosciences,Clinical Psychology & Psychiatry,Public health
                Keywords: Transthyretin,Familial amyloid polyneuropathy
                Data availability:
                ScienceOpen disciplines: Geriatric medicine, Neurology, Cardiovascular Medicine, Neurosciences, Clinical Psychology & Psychiatry, Public health
                Keywords: Transthyretin, Familial amyloid polyneuropathy

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