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At least 19 recordsLinked to original sources
PubMed2001

Hereditary and acquired amyloid neuropathies.

Amyloid neuropathies occur in a context of hereditary (FAP) or acquired amyloidosis. They present usually as severe and progressive polyneuropathy and carry a poor prognosis. Most FAP are associated with endoneurial deposits of variant transthyretin (TTR) with substitution of one aminoacid and are secondary to a point mutation of the TTR gene. Portugal is the main endemic area of TTR-FAP, secondary to point mutation of exon 2. However, around the world, 50 other TTR gene mutations have been recently reported, each one in few families. Genetic studies are useful for diagnosis of FAP in patients with a positive family history and for identification of the cause of seemingly sporadic cases. TTR gene analysis is also useful for genetic counselling including antenatal diagnosis in variants with early onset. Gel-solin-FAP are the second variety and present as a benign cranial and sensory polyneuropathy and affect essentially Finnish patients. Acquired amyloid neuropathy concerns only immunoglobulin light chain amyloidosis (AL) and are frequently associated with renal manifestations and monoclonal protein in serum or urine. Specific treatment of amyloid polyneuropathy varies with the variety of amyloidosis including liver transplantation in TTR-FAP, at the onset of the disease or chemotherapy for immunoglobulin light chain amyloidosis.

Aged↗
PubMed1998

Light chain deposition disease neuropathy resembling amyloid neuropathy in a multiple myeloma patient.

A 65-year-old man with IgG lambda multiple myeloma developed severe polyneuropathy with prominent thermal-pain sensory impairment and autonomic failure. Although the clinical presentation suggested amyloid neuropathy, nerve biopsy showed the immunohistochemical and ultrastructural features typical of light chain deposition disease (LCDD). A precise morphologic and clinical description of LCDD neuropathy is given for the first time in the present report.

Aged↗
PubMed1984

Amyloid neuropathy: relationship between amyloid fibrils and macrophages.

A case of amyloid neuropathy associated with a multiple myeloma IgG light chain is reported. Under light microscopy the peripheral nerve exhibited several amyloid deposits. Electron microscopy revealed numerous amyloid deposits; at their periphery, macrophagic histiocytes were observed, containing a few tufts of parallel fibrils in their cytoplasm. A few plasma cells were scattered in the endoneurium and did not exhibit such a relationship. These findings resemble those recently observed in stem-cell cultures of IgG lambda chain human myeloma.

Amyloid↗
PubMed1983

Amyloid neuropathy in multiple myeloma and other plasma cell dyscrasias. A hypothesis of the pathogenesis of amyloid neuropathies.

The development of amyloid neuropathy is an uncommon complication of multiple myeloma. The clinical, electrophysiological and pathological features of 3 such patients are described. The small fiber neuropathy in these 3 cases was similar to that in patients with primary amyloidosis and with the Andrade-type of familial neuropathy, and differed from the large fiber neuropathy which more commonly develops in patients with multiple myeloma. We advance the hypothesis that the absence of the blood-nerve barrier in the dorsal root and sympathetic ganglia allows the access of amyloidogenic proteins to these ganglia, and that these ganglia are the primary site of damage to the peripheral nervous system in the amyloid neuropathies.

Adult↗
PubMed1999

Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different.

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. In HSAN, the median sensory nerve action potentials (SNAP) were lost early, but the sympathetic skin responses (SSR) were always preserved. In FAP, the SSR were lost at an early stage. The SSR may thus help to distinguish between these two causes of small-fiber neuropathy early in the course of the disorder.

Action Potentials↗
PubMed1996

Ultrastructural immunolabelling of amyloid fibrils in acquired and hereditary amyloid neuropathies.

Both acquired and familial amyloid neuropathies carry a poor prognosis. In addition, amyloid is sometimes difficult to visualise in nerve biopsy specimens, and the pathogenesis of nerve lesions is still a matter of controversy. In order to learn more on the subject, we studied nerve specimens from seven patients with proven amyloid neuropathy by ultrastructural immunocytochemistry in order to better understand their pathogeny and to evaluate the reliability of the method for detection of amyloid antigens in the endoneurium. An indirect immunolabelling technique using protein A-gold complex (pA-g) was applied. Polyclonal antisera against human IgG, IgM, lambda and kappa light chains and prealbumin were assayed. Amyloid fibrils were labelled in six of seven cases: in four cases with anti-transthyretin (TTR) antibodies and in two with anti-lambda light chain antibodies. The type of immunolabelling correlated with the biochemical type of the amyloidosis as defined by TTR gene analysis and serum immunoelectrophoresis. The amyloid fibrils and gold labelling were always located in the endoneurial space. No intracellular deposit or labelling was found. The immunolabelling was highly specific, gold particles being detected only near to amyloid fibrils with no background gold labelling. Ultrastructural immunolabelling with pA-g could be used for detection of amyloid in progressive axonal neuropathy of unknown origin, with important therapeutic implications.

Adult↗
PubMed1999

[Indications for simultaneous origin of a German and American family with type II hereditary amyloid neuropathy].

The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin gene. Only two american kindreds (the Maryland/German and the Ohio family) have previously been reported with FAP II starting in the 3rd or 4th decade by sensory disturbances of the hands typically as a carpal tunnel syndrome. We report on a german family with FAP II from the rhine river area south of Mainz. Four members with typical clinical symptoms showed the histidine 58 mutation like the american families with FAP II. Haplotype analysis showed that all of them were haplotype III like the american patients indicating that the american and german kindreds have a genetic linkage and common familial roots.

Adult↗
PubMed1987

Pathophysiology of diarrhea in patients with familial amyloid neuropathy.

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. Gastric emptying was assessed with conventional roentgen contrast medium and radio-opaque markers. Gastric emptying was delayed, fecal weight and fat excretion increased, and the 14C-glycholate breath test abnormal in all but one patient. In most cases co-trimoxazole reduced diarrhea, steatorrhea, and 14C-glycine deconjugation; vitamin B12 absorption returned to normal in one patient after co-trimoxazole treatment. In a jejunal mucosal biopsy specimen, amyloid was absent in the villi, but small deposits were detected along small vessels and nerves in the lamina propria. These findings suggest altered gastrointestinal motility due probably to an autonomic neuropathy which in turn leads to enteral bacterial overgrowth and subsequently to diarrhea and steatorrhea. This diarrhea can be temporarily alleviated by co-trimoxazole treatment.

Adult↗
PubMed1993

Transthyretin gene mutations in British and French patients with amyloid neuropathy.

Five patients, two British and three French, with late onset amyloid neuropathy were found to have mutations of the transthyretin (TTR) gene associated with the Portuguese and German types of familial amyloid polyneuropathy. Familial amyloid polyneuropathy is rare in the United Kingdom and has not previously been defined at a molecular genetic level. None of the patients had a history of affected antecedents; the role of TTR gene analysis in diagnosing known or suspected amyloid neuropathy, regardless of family history or ethnic background, is emphasised.

Aged↗
PubMed1992

Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy.

To test whether immunohistochemical characterization of proteins in amyloid deposits in biopsied sural nerves gives reliable and useful diagnostic information using commercially available reagents, biopsy specimens of sural nerves from 38 patients with amyloid neuropathy were studied. Transthyretin (TTR) was detected in the amyloid deposits of 11 nerves, lambda light chains (LC) in 8 nerves, kappa LC in 7 nerves, and both lambda and kappa LC in 3 nerves. In 9 nerves, the amyloid deposits were too small to allow adequate immunohistochemical characterization of amyloid proteins in serial sections. Evidence that immunohistochemical characterization was correct came from: 1) evaluation of kin, 2) search for monoclonal proteins in the plasma, and 3) sequencing of the gene abnormalities in TTR+ cases. In 9 of 11 TTR+ cases, in which DNA could be obtained, sequencing of the gene showed that each of the 9 cases was heterozygous for a gene mutation; 7 had previously described mutations and 2 undescribed mutations. Therefore, in the nine sporadic cases without plasma monoclonal light chains, the immunohistochemical characterization correctly identified the protein in amyloid as transthyretin. Likewise, there was a high concordance between immunoglobulin light chains in plasma and light chains in amyloid in primary amyloidosis. Evaluation of the type, distribution, and severity of the neurologic symptoms and deficits showed: 1) the sensorimotor and autonomic neuropathy of amyloidosis characteristically affects proximal as well as distal limbs, and 2) the type of amyloidosis probably cannot be determined from the characteristics or severity of the neuropathy alone or from the location or size of amyloid deposits in nerve.

Aged↗
PubMed1975

[Familial amyloid neuropathy of Corino Andrade. Ultrastructural study of the peripheral nerve in 2 patients].

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. The neurological disorder as well as the effect on general health were much more serious in the second patient. Neuro-muscular biopsy was carried out on each of these patients and revealed excessive endoneural amyloid and very severe lesions of nerve parenchyma mainly secondary to Wallerian degeneration. The results were compared with the few existing ultrastructural studies on the peripheral nerve in amyloid neuropathies.

Adult↗
PubMed1983

[Familial amyloid neuropathies in 3 families of French origin].

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. This was followed by motor and amyotrophic disorders predominant in the lower limbs. Autonomic nervous system disorders were frequent later. Early electromyographic signs were diminished amplitude and increased duration of sensory potentials. Progression of the disease is shown by the onset of signs resulting from severe axonomyelinic lesions. Neuromuscular biopsy demonstrated the presence of amyloid deposits in the endoneurium in 5 of the 6 cases. Transmission appeared to be dominant autosomal. These cases pertain to group I of the amyloid neuropathies. The axonal lesions marking the onset of the affection could be secondary to biochemical alterations in prealbumin, responsible for amyloid formation. This hypothesis affords a basis for plasmapheresis which has been used in 3 patients.

Adult↗
PubMed1989

Molecular genetics of amyloid neuropathy in Europe.

The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling autosomal dominant disorder with onset in early adult life, is caused by a point mutation in the transthyretin (TTR; previously known as prealbumin) gene. DNA analysis in thirteen European families (one British, two French, one Italian, one Greek, and eight Cypriot) showed that members of all those from Cyprus and Greece, and one from France, carried the FAP type I mutation. Patients from seven of these ten kindreds were not known to have a genetic disease before this study, which demonstrated the mutation in 16 of 43 clinically unaffected relatives. 2 of these were aged over 50 years. TTR gene analysis has useful applications in genetic counselling, including prenatal diagnosis, in identifying the cause of seemingly sporadic cases of amyloid neuropathy, and in epidemiological studies of FAP.

Adult↗
PubMed1981

The splanchnic autonomic outflow in amyloid neuropathy and Tangier disease.

The splanchnic outflow is important in the maintenance of postural normotension in humans. Pathology of outflow is usually associated with postural hypotension. Morphometric analyses were performed on the intermediolateral column neuron cell bodies at the T7 level in four cases of amyloid neuropathy and one case of Tangier disease. In amyloid neuropathy, postural hypotension is common; cell counts were reduced and ranged from 50 to 79% of control values. In Tangier disease, postural hypotension has not been reported; cell counts were normal.

Adult↗
PubMed1992

[Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence].

The Portuguese type of familial amyloid polyneuropathy (FAP type I) is a disabling autosomic dominant disorder, which is caused by a point mutation in the transthyretin (TTR) gene. Other TTR gene mutations have been reported recently in other FAP. In the absence of monoclonal gammopathy, sporadic amyloid neuropathies raise a problem for their pathogenicity. In this study, we have looked for TTR gene mutations in apparently sporadic cases of amyloid polyneuropathy by Southern's technique. All the patients were of french origin. None had monoclonal gammopathy. The mean age at onset was 64 (50 to 79 years). Most of the patients (9/1) were male. Five patients were found to carry FAP type 1 mutation, and 2 the tyr 77 (German) mutation. This study suggests that investigations in amyloid polyneuropathy with no overt family history should include systematic DNA analysis.

Adult↗
PubMed1988

[Identification of asymptomatic forms of type I amyloid neuropathy].

Results of DNA analysis in 8 patients with type I amyloid neuropathy (ANI) are reported. A direct link exists between the mutated gene of the prealbumin and the ANI. Carriers of the gene mutating for prealbumin were identified. Autoradiographs after hybridization with a prealbumin probe allowed detection of children who will develop the disease. The molecular probe used was developed for the Japanese form of NAI and allowed affirmation of the identical nature of the neuropathy identified by Araki in Kiu-Shiu and the Portuguese form of Porto.

Amyloidosis↗
PubMedDate not supplied

[Amyloid neuropathy. Ultrastructural study of 2 new cases].

Two familial and sporadic cases of amyloid neuropathy are reported. Nerve biopsies ultrastructural studies permit to involve endothelial and Schwann cells basement membranes into formation of amyloid. This classical notion was worth being recalled and specified. The purpose of amyloid formation is searched in a toxico-metabolic processus possibly in relation with observed demyelinating mechanism. The Schwann cell is at the cross of the cause and of its effect.

Adult↗