HD roster or clinic. He represented the third generation of physicians: These findings are consistent with the widely accepted belief that JHD is indeed a rare form of the disease. Groppi et al Gomez-Totosa et al

In addition, the patients with HD living around Lake Maricaibo are a relatively closed community so it is possible that this also has an effect on the proportion of JHD cases. Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account. There were 62 white, 10 black, 8 mulatto and 1 asian patients. Wexler et al As soon as treatments become available which do alter the natural history of HD, then it will be important to assess their effects on patients at the more extreme end of the phenotypic spectrum.

However, consistent with findings in adult cases,CAG repeat size does not always correlate with age of onset in JHD 5.

chorea huntington dissertation

Roos et al Rasmussen et al The disease was maternally inherited in 23 cases, paternally inherited in 48 and in 10 cases this could not be established. However, the degree of atrophy was not directly related to the duration of the disease.

George Huntington (–)

Low prevalence rates of less than 1 case perhave been reported in Japanese populations 11, The prevalence of HD is considered to be approximately cases perin Caucasian populations 11, 12, 13, 14 but this may be higher Van Duijn et al The disease was clinically manifested by choreic form in 78 cases and primary rigid form in 3 cases. R Development Core Team 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.


chorea huntington dissertation

The age of onset ranged from 5 to 65 years with a mean of A CAG repeat of? Departementet for Det Indre, Christiania, pp — A summary of these studies is presented in cohrea appendix. The following search terms were used in the title and abstract field:.

chorea huntington dissertation

Am J Hum Genet. Orth, Michael; Schwenke, Carsten.

The Prevalence of Juvenile Huntington’s Disease: A Review of the Literature and Meta-Analysis

Alonso et al Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Most studies were conducted in Europe and North America so the effect of considering geography was ddissertation Figure 4 ; however, the three studies from economically less developed countries Figure 5 were effectively from the South African black population and Venezuela.

On February 15,young Huntington traveled to the neighboring town of Middleport, Ohio. Childhood onset was rarer than adolescent onset, with means of 1.

Predictability of Phenotype in Huntington’s Disease

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. Published online July There were 42 women and 39 men.


In 4 of them, there were putaminal hypointense signals and in 1 case with primary rigid form of the disease there was a central hypointense signal with peripheral vhorea rim in this structure. In addition, the number of cases with childhood onset years and adolescent years was extracted if available.

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

For each meta-analysis the I 2 value is reported as a measure of statistical heterogeneity. Creighton et al Of these, the most accurate estimates of prevalence were considered to be from studies with multiple methods of ascertainment. Author information Article notes Copyright and License information Disclaimer.

Ribai et al 6. Dissertatlon Center for Biotechnology InformationU. Age-at-onset in Huntington disease [Internet]. In 14 patients, there was cortical atrophy which was predominant in the posterior regions in 10 of them.