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Journal ArticleDOI

Huntington's Chorea in the West of Scotland

01 Mar 1970-British Journal of Psychiatry (The Royal College of Psychiatrists)-Vol. 116, Iss: 532, pp 259-270
TL;DR: In a survey of Huntington's Chorea within the Scottish Western Regional Hospital Board area, 124 affected persons were examined and information about another 594 cases obtained, and attention is drawn to the desirability of registration of cases.
Abstract: 1. In a survey of Huntington's Chorea within the Scottish Western Regional Hospital Board area, 124 affected persons were examined and information about another 594 cases obtained. 2. The minimum prevalence of the condition in 1960 was 5·2 per 100,000. 3. Some of the factors affecting first hospital referral and survival after final hospital admission in the patients are discussed. 4. The commoner clinical features and abnormal patterns of social behaviour are indicated. 5. The frequency and type of misdiagnoses are indicated, and some of the factors involved are discussed. 6. The clinical pictures in two children with onset under 10 years and 18 adults with onset over 60 years are outlined. 7. Presentation of the illness as a functional psychosis and with delayed or absent chorea is discussed. 8. Possible premonitory symptoms are indicated, and attention is drawn to the desirability of registration of cases.
Citations
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Journal ArticleDOI
TL;DR: Almost all mental disorders have an increased risk of suicide excepting mental retardation and dementia, which is highest for functional and lowest for organic disorders with substance misuse disorders lying between.
Abstract: BACKGROUND Mental disorders have a strong association with suicide. This meta-analysis, or statistical overview, of the literature gives an estimate of the suicide risk of the common mental disorders. METHOD We searched the medical literature to find reports on the mortality of mental disorders. English language reports were located on MEDLINE (1966-1993) with the search terms mental disorders', 'brain injury', 'eating disorders', 'epilepsy', 'suicide attempt', 'psychosurgery', with 'mortality' and 'follow-up studies', and from the reference lists of these reports. We abstracted 249 reports with two years or more follow-up and less than 10% loss of subjects, and compared observed numbers of suicides with those expected. A standardised mortality ratio (SMR) was calculated for each disorder. RESULTS Of 44 disorders considered, 36 have a significantly raised SMR for suicide, five have a raised SMR which fails to reach significance, one SMR is not raised and for two entries the SMR could not be calculated. CONCLUSIONS If these results can be generalised then virtually all mental disorders have an increased risk of suicide excepting mental retardation and dementia. The suicide risk is highest for functional and lowest for organic disorders with substance misuse disorders lying between. However, within these broad groupings the suicide risk varies widely.

2,587 citations

Journal ArticleDOI
TL;DR: Your contributions to the investigation of this tragic disorder are presented and a review of current ideas about the disease is reviewed.
Abstract: Huntington9s disease (HD) is an autosomal dominant disorder of midlife onset, characterized by progressive involuntary choreiform movements, psychologic change, and dementia. In 1980, funded by the NINCDS, we established a center for the study of HD. This report presents a summary of our contributions to the investigation of this tragic disorder and a review of current ideas about the disease.

1,400 citations

Journal ArticleDOI
TL;DR: The authors review the clinical features of Huntington's disease and analyze some genetic and pathophysiologic aspects, that can help to improve the understanding of this disorder involving the basal ganglia.

629 citations

Journal ArticleDOI
TL;DR: It is concluded that most European populations, both Northern and Southern, show a relatively high prevalence of Huntington's disease, and that the disorder may also be frequent in India and parts of central Asia.
Abstract: The available information on the world distribution of Huntington's disease (HD) from population surveys and death rate analysis is summarised and discussed in the light of genetic studies. It is concluded that most European populations, both Northern and Southern, show a relatively high prevalence (4-8 per 100,000), and that the disorder may also be frequent in India and parts of central Asia. HD is notably rare in Finland and in Japan, but data for Eastern Asia and Africa are inadequate. The disorder may have been underestimated in the American black population. Populations derived from recent European immigration show frequencies and origins of HD comparable to those expected from their own origins and expansion; there is no evidence to suggest that the HD gene has spread disproportionally and its selective effect may be close to neutral. Multiple separate introductions of the gene have been the rule in large populations. Several major foci of HD exist as the result of rapid population expansion. It is likely that a number of separate mutations for HD will be shown to be responsible for the disease, but that the high frequency of HD in European populations will prove to be the result of one or a very small number of mutations, probably of great antiquity.

322 citations

Journal ArticleDOI
TL;DR: While similar lesions appear in the infantile, juvenile, and late adult forms of metachromatic leukodystrophy, psychotic symptoms were reported only in those cases presenting in adolescence and young adulthood, suggesting that age is another important neurobiological factor in the development of psychosis.
Abstract: • Metachromatic leukodystrophy is a rare inherited disorder of the nervous system. Symptoms initially can present during childhood, adolescence, or adulthood. Psychiatric symptoms, including complex auditory hallucinations and bizarre delusions, are a prominent feature of metachromatic leukodystrophy presenting when the patient is between 12 and 30 years. One hundred twenty-nine published case reports were reviewed, focusing on the presence of psychosis. Psychosis was present in 53% of the published case reports of adolescent and early adult-onset metachromatic leukodystrophy, a much higher prevalence than that seen with other primary neurological disorders. The pathological lesion of metachromatic leukodystrophy is demyelination of the central and peripheral nervous systems, particularly the subfrontal white matter, suggesting that psychosis may result from the disruption of corticocortical and corticosubcortical connections, especially involving the frontal lobes. While similar lesions appear in the infantile, juvenile, and late adult forms of metachromatic leukodystrophy, psychotic symptoms were reported only in those cases presenting in adolescence and young adulthood, suggesting that age is another important neurobiological factor in the development of psychosis.

257 citations

References
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Journal ArticleDOI
TL;DR: Northamptonshire is a county in which details of pedigrees containing patients suffering from Huntington's Chorea have been kept for the past 14 years, and Reid (i960) found two new subjects in the tenth choreic family of the county.
Abstract: The prevalence of Huntington's Chorea in Northamptonshire in 1967-1968 is compared with its prevalence in 1954-1955. Failure to diagnose, tardy diagnosis, misdiagnosis, dispersal, inaccurate family histories, unsuitable record systems, and inadequate help with contraception for affected families combine to perpetuate the illness. Surveillance of the pedigrees over almost a generation with retrospective data spanning five to eight generations shows the devastation wrought by the illness not only to afflicted members but to their relatives and dependants.

107 citations

Journal ArticleDOI
TL;DR: William Osler considered Huntington's original description of chronic chorea a model of cogent observation and concise presentation and an enhanced appreciation of the variations of tone.
Abstract: William Osler39considered Huntington's27original description of chronic chorea a model of cogent observation and concise presentation. The classic paper set forth the characteristic movement disorder and mental changes and implied a dominant heredity which was ultimately proven correct by Entres18and others. In addition, hypotonia was soon added as a characteristic if not constant finding in this disorder which set it apart from the other heredodegenerative diseases of the basal ganglia. Davenport,12in 1916, noted individual and familial variations in the age of onset of the chorea, as well as the delayed onset or complete absence of dementia in some cases. His concept of different "biotypes" was more fully developed by the Continental neurologists to include a variety of hitherto unrelated neurologic and psychiatric phenomena into a broadened concept of "Huntington's disease." One outgrowth of the biotype theory—an enhanced appreciation of the variations of tone

105 citations

Journal ArticleDOI

95 citations


"Huntington's Chorea in the West of ..." refers background in this paper

  • ...In Scotland, McWilliam (i937) drew at tention to the families subsequently studied in greaterdetailby Lyon (1962),who confirmed the high prevalence of the condition (o@ per cent) in a Ross-shire village....

    [...]

  • ...They include those of Curran (‘930), Critchley (i@@), Spillaneand Phillips(1937),Minski and Gutt mann (1938), Bickford and Ellison (1953), Pleydell (1954), Lyon (1962), Heathfleld (1967), and Oliver (i@7o)....

    [...]

Journal ArticleDOI
TL;DR: The essential pathological features of Huntington's chorea are a primary loss of cells in the caudate nucleus and the putamen, and similar involvement of the cerebral cortex, particularly that of the frontal lobes.
Abstract: Huntington's chorea is an hereditary disorder of the central nervous system characterized by the appearance in adult life of progressive chorea and dementia, and inherited in single autosomal dominant fashion with complete penetrance. The essential pathological features of Huntington's chorea are a primary loss of cells in the caudate nucleus and the putamen, and similar involvement of the cerebral cortex, particularly that of the frontal lobes. Often there is secondary hydrocephalus with gross dilatation of the ventricles. The clinical symptoms do not always correspond with these neuropathological features which are generally regarded as lacking specificity. I: History The disease was first recognized and described in America by Waters (I848), Lyon (I863), and others, before George Huntington gave his famous account of it. It came to be associated, however, with the name of Huntington, and rightly so, for his description of 'Hereditary Chorea' in I872 aroused the admiration of no less a personage than Sir William Osler, for its accuracy, brevity, and vividness. An excellent account of the relation of George Huntington to earlier descriptions of the disease is given by De Jong (I937). Waters recognized the disease to be 'markedly hereditary'. Huntington, with deep insight and acute observation, interpreted the mode of transmission of the disorder and wrote:

80 citations

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