The Genetic Amyloidoses

Mahloudji, Mohsen; Teasdall, Robert D.; Adamkiewicz, Joseph J.; Hartmann, William H.; Lambird, Perry A.; McKusick, Victor A.

doi:10.1097/00005792-196901000-00001

Cited by 84 publications

(6 citation statements)

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“…It was found that these antisera reacted to give a precipitin line of identity with all the preparations of denatured FAP amyloid fibrils isolated from different organs of different cases, but not with primary amyloid fibrils or preparations from normal kidney (Figs. 4 A and B and SA). Other experiments showed that the precipitin line resulted from an antigen present only in the third peak and not in the void volume or second peak fractions.…”

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confidence: 94%

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Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

Costa¹,

Figueira²,

Bravo³

1978

Proc. Natl. Acad. Sci. U.S.A.

360

136

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confidence: 94%

“…Familial amyloidotic polyneuropathy (FAP), type I or Portugese type (4), is a dominant hereditary disease which affects more than 250 families in the northern area of Portugal (5). In this disease, as in other types of amyloidosis, amyloid deposits can be detected in several organs and tissues such as kidneys, gastrointestinal tract, heart, and thyroid.…”

mentioning

confidence: 99%

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

Costa¹,

Figueira²,

Bravo³

1978

Proc. Natl. Acad. Sci. U.S.A.

360

136

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“…Keeping in mind the histories, there are seven definite cases (numbers 9,10,13,14,15,17,18) and one probable case, that of the patient himself.…”

Section: Discussionmentioning

confidence: 99%

“…According to a recent revision made by Mahloudji et al [18], gener alized hereditary amyloidosis can be divided into two types, those that are not fundamentally neuropathic, and those with predominantly neurologic symptoms.…”

Section: Introductionmentioning

confidence: 99%

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Amyloidotic Polyneuritis of Type III (Iowa-Van Allen)

et al. 1974

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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)

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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The Genetic Amyloidoses

Cited by 84 publications

References 0 publications

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

Amyloidotic Polyneuritis of Type III (Iowa-Van Allen)

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

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The Genetic Amyloidoses

Cited by 84 publications

References 0 publications

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

Amyloidotic Polyneuritis of Type III (Iowa-Van Allen)

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

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Product

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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)