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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Marked systemic amyloid angiopathy in patients with val 107 transthyretin mutation
F J Authier1, E Lechapt-Zalcman, J M Mussini
1From the *Département de Pathologie, Hôpital Henri-Mondor, Creteil, France, daggerLaboratoire d'Anatomie Pathologique, Hôtel-Dieu, Nantes, France, double daggerService de Neurologie. Hôpital de Bicètre, Le Kremlin-Bicêtre, Ap-HP, France, paragraph signService de Neurologie, Hôpital Henri-Mondor, Creteil, Ap-HP, France; and paragraph signNew York Veterans Administration Medical Center and Department of Medicine, New York University, New York, NY, USA.
Abstract:
We report three non-inbred patients with Val 107 transthyretin (TTR) amyloidosis. Clinical features were remarkable by the combination of peripheral polyneuropathy, carpal tunnel syndrome, cardiomyopathy, and epilepsy. Pathologic examination disclosed unusual striking systemic amyloid angiopathy in all studied tissues including nerve, muscle, gut, lung, salivary glands, and synovial membrane. It appears that the rare TTR Val 107 variant causes a peculiar familial amyloid syndrome characterized by both widespread systemic TTR amyloidosis and central nervous system deposition sufficient to cause seizures, pointing out the extent of TTR amyloidosis phenotypic heterogeneity.
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