Huntington's chorea: a centenary review

Heathfield, K. W. G.

doi:10.1136/pgmj.49.567.32

Cited by 33 publications

(18 citation statements)

References 74 publications

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“…Previous reports have failed to find a relationship between the number of CAG repeats and the presence of atypical motor symptoms3 7 with the exception of parkinsonism in juvenile onset HD caused by very large trinucleotide expansions 1 23. Molecular analysis in our patient showed the abnormal presence of 39 CAG repeats, which is the shortest abnormal allele described in the literature in atypical HD cases highlighting this absence of relationship.…”

Section: Discussioncontrasting

confidence: 44%

Huntington’s disease masquerading as spinocerebellar ataxia

et al. 2013

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Huntington's disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We report the case of a 42-year-old man with a 5-year history of gait disturbance, dysarthria and cognitive impairment and familial antecedents of dementia and movement disorders. Initially the clinical picture suggested the diagnosis of a dominant SCA, but finally a diagnosis of HD was made based on the molecular evidence of abnormal 39 Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of Huntingtin gene. The authors highlight the importance of suspecting HD in the aetiology of spinocerebellar ataxias when dementia is a prominent feature in the proband or their family.

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Section: Discussioncontrasting

confidence: 44%

Huntington’s disease masquerading as spinocerebellar ataxia

et al. 2013

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“…The age of recognition of the disease, du ration, the frequency of patients from some families, and initial symptomatology com pletely agree with data reported in the world literature [9]. The differences in survival be tween young and old patients are minimal.…”

Section: Discussionsupporting

confidence: 79%

“…These values vary be tween 1.4 and 7.5/100,000 inhabitants, sug gesting that HD is homogeneous and not under the influence of race, sex or environ mental factors [9,10].…”

Section: Discussionmentioning

confidence: 99%

“…Although clinical and biochemical as pects of HD are reported in the Yugoslav medical literature, there are no data concern ing epidemiology [4][5][6][7][8], which is surprising, since such examinations are easily per formed all over the world due to the clear genetic basis and easily recognizable features of the disease [9], HD prevalence rate of 4.46/100,000 inhabitants in Rijeka district is in accordance with values of the distribution throughout the world. These values vary be tween 1.4 and 7.5/100,000 inhabitants, sug gesting that HD is homogeneous and not under the influence of race, sex or environ mental factors [9,10].…”

Section: Discussionmentioning

confidence: 99%

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Epidemiology of Huntington’s Disease in Rijeka District, Yugoslavia

Sepčić¹,

Antonelli²,

Šepić-Grahovac³

et al. 1989

Neuroepidemiology

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Epidemiologic study of Huntington''s disease (HD) in the Rijeka district represents the first research of its kind carried out in Yugoslavia. After a detailed instigation of all available sources of health information, ten families, with a total number of 24 HD patients, were found. The prevalence rate of HD on March 31, 1981, was 4.46/100,000 population. Most of the patients involved were members from the second or third familial generation. The age at recognition of disease was 41.6 years, with earlier onset among the males. Involuntary movements frequently appeared as the initial symptomatology (45.8%). Duration of the disease from initial symptomatology to death averaged at 10.6 years. Six of nine patients who died had committed suicide. It took physicians of primary care, neurologists, and psychiatrists 5.3 years (1–12 years) to make a definite diagnosis. Nine of the affected families from Rijeka district were autochthonic households. Six of these families immigrated from Saxony, Slovakia and Upper Carinthia during the reign of the Habsburg dynasty (1619–1780).

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“…The clinical features ofHC havereceived prominent attention intheliterature since GeorgeHuntington's lucid description over a century ago (Huntington, 1872;Heathfield, 1973). The fact that the disease is inherited by an autosomal dominant gene has also been recognised since that time.…”

Section: Bmartindalementioning

confidence: 97%

Huntington's Chorea: Some Psychodynamics seen in those at Risk and in the Responses of the Helping Professions

Martindale

1987

Br J Psychiatry

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The autosomal dominant mode of inheritance of Huntington's Chorea (HC) has been established for over 100 years. Strong psychological defences against the acceptance of this knowledge are commonly found both in professionals and in Huntington families and relatives who are at risk. One consequence of maintaining these defences is the continuing transmission of the gene, and therefore the disease, to succeeding generations. The defences of professional persons protect them from the difficult and unsettling task of providing genetic counselling to healthy relatives at risk. An increase in awareness of the psychodynamics involved may lead to constructive thinking about the current deficiencies in care and counselling services provided for these families.

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Huntington's chorea: a centenary review

Cited by 33 publications

References 74 publications

Huntington’s disease masquerading as spinocerebellar ataxia

Huntington’s disease masquerading as spinocerebellar ataxia

Epidemiology of Huntington’s Disease in Rijeka District, Yugoslavia

Huntington's Chorea: Some Psychodynamics seen in those at Risk and in the Responses of the Helping Professions

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