CHOREA HUNTINGTON DISSERTATION

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We have presented a review of the proportion of cases with JHD from 62 studies. Fig 4 summarises these studies from high income countries. But no man is an island. A review of the literature found 62 studies that reported the proportion of JHD cases amongst all HD cases. There were 25 studies applying MMA summarised in Fig 3.

Although there are many similarities with the adult form of the disease, JHD has a clinically distinct presentation; the dominant motor feature being a parkinsonian type syndrome of rigidity, dystonia and bradykinesia, rather than chorea 2, 3, 4. Maat Kievit et al A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Doctor Huntington continued his work until , the year he retired due to deteriorating health [ 1 , 8 ]. Our website uses cookies to enhance your experience. The most parsimonious explanation for clinical variability in HD is that all HD types are part of a continuum, although expression of the juvenile form may be partly determined by a maternally transmitted factor.

Huntington’s disease: clinical aspects in 81 patients

Myers et al Molecular diagnosis of Huntington disease in Portugal: However, the degree of atrophy was not directly related to the duration of the disease.

Farrer, PhD ; P.

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Predictability of Phenotype in Huntington’s Disease

Secondly, data are included that are published in more than one paper. However, consistent with findings in adult cases,CAG repeat size does not always correlate with age of onset in JHD 5. George Huntington scrupulously analyzed those notes, keeping in his memory the gradual mental and motor deterioration of the patients he saw in his childhood as he accompanied his father on visits to the sick in East Hampton.

  CURRICULUM VITAE DJØF

Ridley et al However this may represent under-ascertainment 12with studies employing more extensive methods reporting equivalent rates Ann Hum Genet ;47 3: The longitudinal study of families from the area around Lake Maricaibo has been important in that it contributed to the original localisation of the gene to chromosome 4 and for an understanding of the natural history of the condition 10 44 80 The mean huntinvton of JHD huntingtom from these three studies was 9.

Conclusion We have presented a review of the proportion of cases with JHD from 62 studies.

George Huntington (1850–1916)

Proportions were first transformed using the Freeman-Tukey double arc-sin transformation before being combined. Kussmaul A, Nothnagel H Chorea minor.

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Annual Mid-year Population Estimates, These studies were combined with those reported by Hayden 11increasing the total number of studies to In the latter 3 cases, the disease onset was significantly earlier than mean for the remainder. Faroud et al It is possible that a centre which uses a roster approach may have some patients included in different studies but our final analysis was based on studies which used multiple methods of ascertainment MMA so this is dissertatjon less likely to be a problem.

The Treasury of Human Inheritance.

His contribution to neuroscience was recognized during his lifetime and, inhe became an honorary member of the Brooklyn Society of Neurology dissrrtation 89 ].

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The prevalence of HD is considered to be approximately cases perin Caucasian populations 11, 12, 13, 14 but this may be higher Does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Predictability of Phenotype in Huntington’s Disease | JAMA Neurology | JAMA Network

George Junior graduated from the Clinton Academy in his native town and, inbegan his medical studies at the College of Physicians and Surgeons at Columbia University in New York. Published online Apr The most parsimonious explanation for clinical variability in HD is that all HD types are part of a continuum, although expression of the juvenile form may be partly determined by a maternally transmitted factor. Articles not written in English were excluded, the one exception being the German language Panse study 20 as it was included in the original Hayden study.

Hayden et al The age of onset ranged from 5 to 65 years with a mean of Age-at-onset in Huntington disease [Internet]. For each study the proportion of HD cases with juvenile onset was calculated and expressed as a percentage. The black population data from Hayden 28 were excluded for purposes of the statistical analysis since there were no HD cases reported.