Results 151 to 160 of about 319,403 (201)
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Neuro-Ophthalmology, 2023
Familial amyloid polyneuropathy is a rare autosomal dominant hereditary disease. Optic nerve involvement is frequently observed secondary to uncontrolled glaucoma but, rarely, an ischaemic optic neuropathy can occur. In this case report we describe a patient who presented with bilateral progressive visual loss and constriction of his visual fields ...
José Ignacio Vela +4 more
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Familial amyloid polyneuropathy is a rare autosomal dominant hereditary disease. Optic nerve involvement is frequently observed secondary to uncontrolled glaucoma but, rarely, an ischaemic optic neuropathy can occur. In this case report we describe a patient who presented with bilateral progressive visual loss and constriction of his visual fields ...
José Ignacio Vela +4 more
openaire +3 more sources
Muscle & Nerve, 1999
We compared the clinical and electrophysiological findings in seven patients with familial amyloid polyneuropathy (FAP) and six with hereditary sensory and autonomic neuropathy type I (HSAN). Both groups had progressive loss of pain and temperature appreciation, beginning distally in the feet.
Z M, Shivji, P, Ashby
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We compared the clinical and electrophysiological findings in seven patients with familial amyloid polyneuropathy (FAP) and six with hereditary sensory and autonomic neuropathy type I (HSAN). Both groups had progressive loss of pain and temperature appreciation, beginning distally in the feet.
Z M, Shivji, P, Ashby
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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
openaire +2 more sources
[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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