Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen.

Harper, Peter S.

doi:10.1136/jmg.14.6.389

Cited by 31 publications

(13 citation statements)

References 44 publications

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“…The existence of an infective agent has been postulated since a number of diseases caused by slow viruses (such as kuru) had initially been regarded as due to an autosomal dominant trait [9].…”

Section: Nature Of the Partial Syndromementioning

confidence: 99%

Incomplete manifestations of myotonic dystrophy in a large kinship in labrador

Pryse-Phillips

Johnson

Larsen

1982

Annals of Neurology

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In a large kinship affected by myotonic dystrophy (MyD), 133 subjects, including 21 spouses, were examined independently by a neurologist and an ophthalmologist to determine the earliest identifying evidence of the disease. Assessment included tonometry, slit-lamp examination, facial measurements, and electromyography (EMG). Thirty-two subjects, all of whom had EMG characteristics of myotonia, were definitely affected. Low intraocular tensions were a more consistent finding than lens opacities; endocrine abnormalities were absent. Twenty-seven subjects had one to five features but lacked clinical or electrographic evidence of myotonia; they were designated as having a "partial syndrome." Signs most commonly found included weakness of the upper face, brachial hyporeflexia, low intraocular tensions, and the presence of sparse colored specks at the posterior poles of the lenses. All but 2 subjects (siblings) with the partial syndrome had a parent with either MyD or the partial syndrome. Linkage studies indicated that 7 subjects should not be carrying the gene, while others could be regarded as having a minor expression of MyD. In most persons with the partial syndrome, we could not predict whether typical MyD would develop later. Transmission of the disease may depend upon more than a single autosomal dominant gene, and nongenetic influences may also be important.

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Section: Nature Of the Partial Syndromementioning

confidence: 99%

Incomplete manifestations of myotonic dystrophy in a large kinship in labrador

Pryse-Phillips

Johnson

Larsen

1982

Annals of Neurology

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“…The variety of responses to HBV infection and the family clustering of the carrier state (Blumberg 1977, Ceppellini et al 1970) might derive from a genetic background influencing virus-host interactions or from an epidemiological context mimicking mendelism (Harper 1977). Studies on this issue in the general population and at the family level havc givcn inconclusive results.…”

Section: Discussionmentioning

confidence: 99%

Endemic HBV infection, tissue autoantibodies and HLA: Analysis of a Sardinian population

et al. 1983

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Serum samples of 405 HLA‐ typed individuals from four Sardinian villages were analyzed for HB virus markers and for tissue autoantibodies. Of the 59% individuals who had been exposed to HBV, 10% were healthy carriers; they showed a weak association with the HLA‐B40 specificity compared with the immune or non‐exposed groups, and a negative association of DR4, limited to females. Tissue auto‐antibodies were significantly associated with DR1 and more weakly with B14, probably through linkage disequilibrium.

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“…A genetic explanation was initially proposed based in the apparent restriction of the disease to a particular tribal group and the remarkable familial clustering, with vertical transmission from generation to another (Harper, 1977). The elucidation of the causative factors of kuru came from the elegant experimental approaches and epidemiological studies carried out by Gajdusek and others (Harper, 1977;Zetterstrom, 2010).…”

Section: From Scrapie To Kuru -The Discovery Of Infectious Prionsmentioning

confidence: 99%