Studies on Familial Amyloid Polyneuropathy in Ogawa Village, Japan

Kito, Shozo; Itoga, Eiko; Kamiya, Kenji; Kishida, Takenobu; Yamamura, Yuichi

doi:10.1159/000115139

Cited by 63 publications

(22 citation statements)

References 5 publications

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“…FAP used to be considered a disease peculiar to endemic areas and there are four well-known endemic foci of this disease in the world: Oporto in Portugal (34), the northern part of Sweden (35), and Arao (36) and Ogawa (37,38) in Japan. However, during the past 20 years a number of FAP families have been found in non-endemic areas (39), and it is now recognized that FAP exists in many nations worldwide.…”

Section: Hereditary Amyloidosismentioning

confidence: 99%

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Ikeda

2004

Intern. Med.

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Cardiac amyloidosis is a fatal disorder which develops on the basis of the different pathologic conditions in systemic amyloidosis: the most common underlying disease is immunoglobulin light chain-derived primary amyloidosis and the next is transthyretin-related hereditary amyloidosis; the latter disorder, typically represented by familial amyloid polyneuropathy, was long regarded as an endemic disease. However, this disorder has now been shown to involve a highly variable clinical picture due to a large number of transthyretin gene mutations, and many patients with diverse ancestors suffer from severe cardiac amyloidosis. Additionally, senile systemic amyloidosis is now noted as a cause of cardiac dysfunction in elderly individuals. Echocardiogram and myocardial technetium-99m-pyrophosphate scintigraphy can provide characteristic findings. Immunohistochemistry on tissue amyloid, biochemical analysis of serum and urine proteins, and DNA sequencing are usually employed to determine the disease-related amyloid fibril protein.Although systemic amyloidosis has become treatable, the prognosis of each patient who received up-to-date and effective, but nevertheless stressful, therapy depends on the severity of cardiac involvement by amyloid deposition.

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Section: Hereditary Amyloidosismentioning

confidence: 99%

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Ikeda

2004

Intern. Med.

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“…Japanese Type I FAP The mean age of onset of type I FAP in Kumamoto and Nagano was reported to be 32 and 33 years old, respectively (3,4,21). On the other hand, the mean age of onset was 40.1 years in the cases of the present study who were resided in all 16 districts.…”

Section: Determination Of Serum Met30 Transthyretin Levelmentioning

confidence: 99%

“…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%

“…Patients usually expire from cardiac or renal failure 10 to 15 years after onset (4). Two well-known conglomerations of families with type I FAP are found in Kumamoto and Nagano Prefectures of Japan (2,3). Amyloid fibrils of type I FAP consist of a variant transthyretin, which has one amino acid substitution of methionine for valine at position 30 (5-7).…”

Section: Introductionmentioning

confidence: 99%

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Type I Familial Amyloidotic Polyneuropathy in Japan.

et al. 1992

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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.

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“…Although the most common type of hereditary generalized amyloidosis in Japan is type I FAP (28,29), a family of atypical type I FAP (FAP-IY) with CNS involvement has been found in Iiyama. The most remarkable feature of FAP-IY is the disorder of the CNS: cerebellar signs of dysarthria, incoordination in limbs, ataxic gait, and pyramidal tract signs.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.

Furuya¹,

Yoshioka²,

Sasaki³

et al. 1987

J. Clin. Invest.

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A Japanese family with atypical type I familial amyloidotic polyneuropathy (FAP) in Iiyama, Japan was studied. Most of the family members have dysfunctions of the central nervous system, in addition to typical symptoms of type I FAP. The transthyretin (TTR, also called prealbumin) gene of the atypical FAP(FAP-IY) was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutation responsible for the methionine-for-valine substitution at position 30 of TTR, as in the case of typical type I FAP. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-TY has a genetic background differing from that of the typical type I FAP. These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene.

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Studies on Familial Amyloid Polyneuropathy in Ogawa Village, Japan

Cited by 63 publications

References 5 publications

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Type I Familial Amyloidotic Polyneuropathy in Japan.

Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.

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