A Peculiar Form of Peripheral Neuropathy

Andrade, Carla Sousa

doi:10.1111/j.1600-0447.1951.tb09673.x

Cited by 58 publications

(42 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…T h e disease, endemic i n the Povoa de Varzim area of northern Portugal near Oporto, was observed to have distinctive clinical, genetic, and pathologic characteristics (17). At the present time, 173 families have been detected with 696 patients of which 284 have been examined (18).…”

Section: Portuguese Amy Lo1 Dosls Fam I Lies*mentioning

confidence: 99%

Hereditary amyloidosis

Andrade

Araki

Block

et al. 1970

Arthritis & Rheumatism

Self Cite

View full text Add to dashboard Cite

A review of hereditary amyloidoses is provided by papers from a 1969 international symposium on primary amyloidosis. These discussions allow comparison of the amyloid neuropathy with onset in the lower extremities (POrtUgueseJapanese families), the neuropathy with onset in the upper extremities (Indiana-Maryland families), the neuropathy and nephropathy of the Iowa family, and the amyloidosis of familial Mediterranean fever. The importance of studies of genetic entities in understanding the pathogenesis of amyloidosis is emphasized.

show abstract

Section: Portuguese Amy Lo1 Dosls Fam I Lies*mentioning

confidence: 99%

Hereditary amyloidosis

Andrade

Araki

Block

et al. 1970

Arthritis & Rheumatism

Self Cite

View full text Add to dashboard Cite

show abstract

“…Type I FAP, the subclass of FAP widely distributed throughout the world, usually starts between the twenties and forties with dissociated sensory distur bance in the lower extremities and autonomic dysfunction (1)(2)(3). As the disease progresses, sensory disturbance advances to affect the trunk and upper extremities as well, followed by motor neuropathy.…”

Section: Introductionmentioning

confidence: 99%

“…Familial amyloidotic polyneuropathy (FAP) is an inherited systemic amyloidosis with autosomal dominant inheritance (1). Type I FAP, the subclass of FAP widely distributed throughout the world, usually starts between the twenties and forties with dissociated sensory distur bance in the lower extremities and autonomic dysfunction (1)(2)(3).…”

Section: Introductionmentioning

confidence: 99%

Type I Familial Amyloidotic Polyneuropathy in Japan.

et al. 1992

View full text Add to dashboard Cite

We studied 107 cases and 64 carriers of type I familial amyloidotic polyneuropathy (FAP) residing in 16 districts in Japan. The age of onset of illness ranged from 20 to 71 years old, with a mean of 40.1 ± 12.8 years (SD). One quarter of the cases were late-onset patients who developed the disorder after age 50. Asymptomatic carriers older than age 50 accounted for 20% of total carriers, with the oldest carrier being a 94-year-old woman. All the patients had a variant transthyretin with a methionine-for-valine substitution at position 30 with a mean serum level of 9.78 ± 3.27 (SD) mg/dl. The serum level did not significantly differ by gender in either patients or carriers, nor between patients and carriers. Incomplete penetrance of clinical expression was shown in eight cases. This study indicates that there is a considerable variety in age of onset, progression and geographic distribution of type I FAP in Japan.

show abstract

“…4 FAP associated with amyloidogenic transthyretin (ATTR) is characterized by amyloid deposition in peripheral nerves, visceral organs, autonomic nervous system, gastrointestinal tract, and ocular tissues. 5 The disease duration is about 10 years after onset 6 unless liver transplantation is performed during the early stage. 7,8 By the end of 2000, more than 500 patients worldwide with FAP had undergone this surgery, with about 80% of them surviving.…”

mentioning

confidence: 99%

Immunization in familial amyloidotic polyneuropathy: counteracting deposition by immunization with a Y78F TTR mutant

Terazaki

Ando

Fernandes

et al. 2006

Laboratory Investigation

View full text Add to dashboard Cite

The mechanism of amyloid formation in familial amyloidotic polyneuropathy (FAP), a hereditary disorder associated with mutant transthyretin (TTR), is still unknown. It is generally believed that altered conformations exposing cryptic regions are intermediary steps in this mechanism. A TTR mutant-Y78F (transthyretin mutant with phenylalanine replacing tyrosine at position 78)-designed to destabilize the native structure has been shown to expose a cryptic epitope recognized by a monoclonal antibody that reacts only with highly amyloidogenic mutants presenting the amyloid fold or with amyloid fibrils. To test whether TTR deposition in FAP can be counteracted by antibodies for cryptic epitopes, we immunized with TTR Y78F, transgenic mice carrying the most common FAP-associated TTR mutant-V30M (transthyretin mutant with methionine replacing valine at position 30)-at selected ages that present normally with either nonfibrillar or TTR amyloid deposition. Compared to age-matched control nonimmunized mice, Y78F-immunized mice had a significant reduction in TTR deposition usually found in this strain, in particular in stomach and intestine; by contrast, animals immunized with V30M did not show differences in deposition in comparison with nonimmunized mice. Immunohistochemical analyses of tissues revealed that immunization with Y78F lead to infiltration by lymphocytes and macrophages at common deposition sites, but not in tissues such as liver, choroid plexus, and Langerhans islets, in which TTR is produced. These results suggest that Y78F induced production of an antibody that reacts specifically with deposits and leads to an immune response effective in removing/ preventing TTR deposition. Therefore, TTR immunization with selected TTR mutants has potential application in immune therapy for FAP.

show abstract

A Peculiar Form of Peripheral Neuropathy

Cited by 58 publications

References 0 publications

Hereditary amyloidosis

Hereditary amyloidosis

Type I Familial Amyloidotic Polyneuropathy in Japan.

Immunization in familial amyloidotic polyneuropathy: counteracting deposition by immunization with a Y78F TTR mutant

Contact Info

Product

Resources

About