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1/3. Bilateral corneal perforation in familial amyloidotic polyneuropathy.

    PURPOSE: We report the progression of bilateral central perforating ulceration in the cornea of a patient with familial amyloidotic polyneuropathy (FAP), also known as hereditary Portuguese amyloidosis, who received two corneal grafts in an interval of 6 years. The pathology of the original host and the grafted cornea is described. methods: overall histology and immunolocalization of transthyretin, amyloid beta (Abeta), and epithelial and inflammatory markers were performed. RESULTS: Corneal sensitivity and tear film were reduced. The grafted but not the original tissue contained amyloid deposits with transthyretin immunoreactivity. Epithelial and stromal thinning was accentuated in the graft, with epithelial dysplasia, hyperproliferation, and parakeratosis. Abundance of basement membrane material in hyperproliferative regions suggested recurrent attempts of wound healing. Activated keratocytes, ingrowth of vessels, infiltrated inflammatory, and immune cells reflect both acute and chronic inflammation. CONCLUSION: Amyloid deposits may progressively reduce corneal sensitivity and damage epithelium and stroma. Corneal neuropathy, together with impaired tear film, may entail the pathology of dry eyes as a bystander effect, contributing to exacerbation of epithelial injury, deregulated proliferation, and parakeratosis. Once established, both acute and chronic inflammation may sustain progression of the corneal pathology.
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2/3. Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report.

    Three brothers in a family with Val30Met transthyretin (TTR) amyloid polyneuropathy (FAP) in Iiyama, japan were studied pathologically. In this family, affected members have been reported to show typical clinical features of FAP, and some have been documented to exhibit symptoms and signs of central nervous system (CNS) involvement consisting of cerebellar ataxia and pyramidal tract signs. After the original description, this family was regarded as a unique phenotype of this form of FAP; however, subsequent molecular genetic studies revealed that some patients and asymptomatic members in the family had Val30Met TTR and/or spinocerebellar ataxia type 1 (SCA1) gene mutations. In this study, pathological examination of two patients with both FAP and CNS symptoms showed (1) TTR-immunoreactive leptomeningeal and cerebrovascular amyloid deposition compatible with Val30Met TTR FAP, and (2) neuronal loss and gliosis mainly in the Purkinje cell layer, spinocerebellar system, olivo-ponto-cerebellar system, dentato-rubral system, gracile nuclei, cuneate nuclei, and various nuclei of cranial nerves, accompanied by anti-expanded polyglutamine tract antibody positive neuronal intranuclear inclusions, all of which were compatible with the pathological findings of SCA1. On the other hand, the remaining patient with FAP symptoms only showed the former pathological finding alone. The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.
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3/3. Birth of two healthy females after preimplantation genetic diagnosis for familial amyloid polyneuropathy.

    Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein. A genetic diagnosis was developed using fluorescent single cell polymerase chain reaction (PCR) on lymphocytes from patients and controls. Ovarian stimulation and oocyte retrieval were carried out using conventional protocols in a couple in whom the female was heterozygous for the mutation TTR V30M. Blastomere biopsy was performed on day 3 after intracytoplasmic sperm injection. PCR was then performed for a segment of the TTR gene encompassing the V30M mutation. The transfer of three embryos at day 4 resulted in a twin pregnancy, confirmed as healthy females by amniocentesis at 16 weeks of gestation; the birth took place at 37 weeks of gestation. With this report, FAP, TTR related, joins the lengthening list of genetic conditions for which preimplantation genetic diagnosis has been successfully carried out.
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