Results 121 to 130 of about 2,447 (165)
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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 +3 more
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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 +3 more
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Pathophysiology of Diarrhea in Patients with Familial Amyloid Neuropathy
Digestion, 2009Seven 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 B<sub>12</sub> absorption were performed before and after treatment with co-trimoxazole.
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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 +2 more
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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 +2 more
openaire +2 more sources
European Neurology, 2008
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 +3 more
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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 +3 more
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[Familial amyloid neuropathies in 3 families of French origin].
Revue neurologique, 1983Clinical, 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 +4 more
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Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
Journal of Medical Genetics, 1999Twin 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 +6 more
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[Familial amyloid neuropathies].
Revue neurologique, 1994Recent 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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Generalized Amyloid in a Family of Swedish Origin
Annals of Internal Medicine, 1977We report a new kinship with systemic amyloid presenting as peripheral neuropathy in the fourth and fifth decades of life. A progressive sensory and motor loss starting in the lower extremities occurs from this disease, and there is subsequent renal, cardiac, gastrointestinal, ocular, and cutaneous involvement.
M D, Benson, A S, Cohen
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Revue neurologique, 1976
The authors describe two typical cases of Portuguese amyloid neuropathy in immigrants. One of the patients had been ill for only a short time while the other's condition had been developing over more than ten years. The first patient's neuropathy was characterized by a perforating ulcer of the foot and loss of sensation.
J, Julien +5 more
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The authors describe two typical cases of Portuguese amyloid neuropathy in immigrants. One of the patients had been ill for only a short time while the other's condition had been developing over more than ten years. The first patient's neuropathy was characterized by a perforating ulcer of the foot and loss of sensation.
J, Julien +5 more
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