Results 111 to 120 of about 2,353 (157)

Pathophysiology of Diarrhea in Patients with Familial Amyloid Neuropathy

Digestion, 1987
Seven patients with familial amyloid neuropathy (AF amyloidosis) were studied to clarify the pathophysiology of the diarrhea associated with this disorder. Fecal weight and fat determinations, 14C-glycocholate breath tests, and a test of B12 absorption were performed before and after treatment with co-trimoxazole.
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Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy

Amyloid, 2018
No ...
Luigetti, Marco, Primiano, Guido, Bisogni, Giulia, Cuccagna, Cristina, Carrozzo, Rosalba, Obici, Laura, Bernardo, Daniela, Sancricca, Cristina, Servidei, Serenella   +8 more
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Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy

Clinical Neurology and Neurosurgery, 2012
Transthyretin familial amyloid polyneuropathy (TTR-FAP) and ereditary neuropathy with liability to pressure palsy (HNPP) are wo rare autosomal dominant neuropathies. TTR-FAP is the most ommon inherited amyloidotic polyneuropathy, which presents s a progressive, sensori-motor and autonomic, length-dependent europathy that ultimately leads to death 9–11 ...
Isabel, Conceição, Hipólito, Nzwalo, Mamede, de Carvalho   +2 more
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Clinical value of immunohistochemistry with AF-antibody in the diagnosis of familial amyloid neuropathy

Journal of Neurology, 1984
Peripheral polyneuropathy associated with recurrent diarrhoea and orthostatic hypotension was observed in two unrelated German kinships and two sporadic cases. Congo red staining and polarization microscopy of biopsy specimens revealed amyloid deposits.
G E, Feurle, R P, Linke, E, Kuhn, A, Wagner   +3 more
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[Familial amyloid neuropathies in 3 families of French origin].

Revue neurologique, 1983
Clinical, electromyographic and neuropathological studies were carried out at different stages of evolution of a familial amyloid neuropathy in 6 members of 3 families of French origin. The clinical onset was marked by sensory symptoms and signs in limb extremities, primary manifestations being alterations in pain and thermal sensitivity.
J, Julien, C, Vital, J M, Vallat, A, Lagueny, X, Ferrer   +4 more
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Familial Amyloid Polyneuropathy: Report of an Autopsy Case with Neuropathy, Vitreous Opacities and Polycystic Kidney

European Neurology, 1989
A 26-year-old Italian male with an unusual form of familial amyloidosis was investigated. The present case does not seem to fit into any of the forms of familial amyloidosis known for the different combinations of organ involvement. The patient developed renal failure, vitreous opacities and a sensorimotor neuropathy with trophic changes in the lower ...
R, Scelsi, A P, Verri, G, Bono, A, Marbini   +3 more
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Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30

Journal of Medical Genetics, 1999
Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal.
M, Munar-Qués, J L, Pedrosa, T, Coelho, L, Gusmão, R, Seruca, A, Amorim, J, Sequeiros   +6 more
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[Familial amyloid neuropathies].

Revue neurologique, 1994
Recent advances in molecular biology have given improved knowledge of familial amyloidotic polyneuropathies (FAP). FAP, originally described in Portuguese patients have been observed in many countries. These neuropathies are characterized by a sensory motor deficit beginning in the lower limbs and associated with autonomic nervous system involvement ...
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Amyloid Fibril Protein in Familial Amyloidosis with Cranial Neuropathy and Corneal Lattice Dystrophy (FAP Type IV) is Related to Transthyretin

American Journal of Clinical Pathology, 1988
Immunocytochemical methods were used to study the nature of the amyloid deposits in the Finnish type-familial amyloid polyneuropathy (FAP) type IV, which is characterized by cranial neuropathy and corneal lattice dystrophy. Commercial antisera to human plasma transthyretin (prealbumin) did not stain the amyloid deposits, but in every case a positive ...
C P, Maury, A M, Teppo, A L, Karinemi, A H, Koeppen   +3 more
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'Nonprealbumin‐related' familial amyloid poly neuropathy

Neurology, 1988
S, Ueno, Y, Nakamura, M, Takahashi, S, Tarui, H, Sasaki   +4 more
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