Primary Neuropathic Amyloidosis in Three Brothers

Zalin, A. M.; Darby, A. J.; Vaughan, Stuart L.; Raftery, Edward B.

doi:10.1136/bmj.1.5897.65

Cited by 25 publications

(13 citation statements)

References 9 publications

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“…Attention should be paid, however, to the fact the highest age at the onset is 68 years and that the ages at the onset of 5 cases were higher than 60 years. Antunes et al (1963), Anderson (1970), andZalin et al (1974) also reported the cases whose onset ages were higher than 60 years. This suggested that the range of the ages at the onset of FAP is wider than ever thought.…”

Section: Discussionmentioning

confidence: 96%

Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan

Itoga

Kito

1982

Jap J Human Genet

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SummaryGenetic studies were made in 120 males and 92 females of 408 constituents of 22 pedigrees of familial amyloid polyneuropathy (FAP) originated from Ogawa Village area, Japan. The results were as follows. 1) The ages at the onset ranged from 20 to 68, and the mean age was 35.38 in males and 37.88 in females.2) The cumulative morbid risk ratio was high as 0.8 and above.3) The penetrance was very high, i.e. 100K when calculated from parents' side and 99.29~ from children's side. No skipping of generations was noticed except a case in which the determination of "affected" or "non affected" was impossible. 4) The segregation ratios were 34.67+27.50~ as calculated by a single selection and 45.80_+2.86~ by a complete selection. 5) The transmission mode of FAP originated from Ogawa Village, Japan was autosomaly dominant. The highness of the cumulative morbid risk ratio and penetrance ratio suggests high incidence of this disease, in future too, and the early etiological clarification is desired.

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Section: Discussionmentioning

confidence: 96%

Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan

Itoga

Kito

1982

Jap J Human Genet

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“…Rare patients have onset as late as their fifties or sixties [Bastos Lima and Martins da Silva, 19801. Late onset may cluster in families [Zalin et al, 1974;Coutinho et al, 1980;Libbey et al, 19811. Onset is significantly later in Swedish patients with type I HAN [Anderson, 19761, but not in the Japanese [Kito et al, 1980;Sakoda et al, 19831.…”

Section: Introductionmentioning

confidence: 97%

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Sequeiros

Saraiva

Opitz³

et al. 1987

Am. J. Med. Genet.

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In a Portuguese-American family with hereditary amyloid neuropathy (familial amyloidotic polyneuropathy), onset was in the seventh decade in all affected relatives. Another unusual characteristic was their origin from the Portuguese island of Madeira. In spite of this, the mutant transthyretin (TTRMet30) (the same variant prealbumin that is the circulating precursor of AFP protein in the classic Portuguese patients) could be found in the propositus' plasma. In addition, three other asymptomatic relatives (ages 90, 73, and 48) were shown to carry the mutation. Late onset and incomplete penetrance, at a clinical level, raise problems for presymptomatic detection of mutant TTR, as these tend to cluster in families. When counseling asymptomatic heterozygotes, we must consider intra-familial correlation in age-of-onset, and the distribution of age-of-onset including age of unaffected heterozygotes. This family poses interesting questions regarding pathogenesis of this degenerative process and the influence of other genetic factors, such as modifiers, epistasis, and polymorphism of the TTR genes or their regulators. A cis-effect of a gene linked to the mutant gene, decreasing the synthesis of the mutant TTR and keeping a sufficient amount of the normal one in circulation, or producing some cofactor for TTR, could also explain late onset and apparently incomplete penetrance; the occasional finding of classic forms in these families would be the result of recombinatory events.

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“…Several kindreds with the same features have been reported from Japan (Araki et al, 1968) and Sweden (Andersson, 1970). There have also been case reports from Brazil, U.S.A., France, Germany and Poland (Stanbury, Wyngaarden and Fredrickson, 1978) and one of an English family (Zalin et al, 1974). The disease is transmitted by an autosomal dominant gene and proceeds a relentless course from its onset in early adult life to death from cachexia, intercurrent infection and heart failure within 5-10 years of the onset of symptoms.…”

Section: Introductionmentioning

confidence: 79%

Portuguese-type amyloid neuropathy in an English family

Mahood

1980

Postgraduate Medical Journal

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A 31-year-old woman thought to be suffering from a psychiatric illness was found to have peripheral and autonomic neuropathy, keratoconjunctivitis sicca and vitreous opacities. Her mother had died 10 years previously, aged 42 years from an undiagnosed illness with similar features. Histological proof of amyloidosis was obtained in both cases. This is the second report of familial amyloid neuropathy in an English family.

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Primary Neuropathic Amyloidosis in Three Brothers

Cited by 25 publications

References 9 publications

Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan

Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Portuguese-type amyloid neuropathy in an English family

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Primary Neuropathic Amyloidosis in Three Brothers

Cited by 25 publications

References 9 publications

Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan

Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Portuguese-type amyloid neuropathy in an English family

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Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)