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Prevalence of inflammatory disorders in Huntington's disease

Holliday, Michaela (2018) Prevalence of inflammatory disorders in Huntington's disease. Master Essay, University of Pittsburgh.

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Background: Huntington’s disease (HD) is a devastating, neurological, genetic disease characterized by the degradation of neural cells over time. No treatment is currently available and long-term care is costly. Inflammatory disorders, such as Multiple Sclerosis (MS) and arthritis, are characterized by an overactive immune system. The relationship between inflammation and neurodegeneration is poorly understood, but studies indicate that alleles associated with immune response and neuroinflammation are enriched in HD patients. Using data from a multinational, observational study (Enroll-HD), I assessed whether the presence of two inflammatory disorders, MS and arthritis, was higher among individuals with manifest HD compared to those who had either pre-manifest HD, were genotype negative or were family controls. This study is important for public health because HD is understudied, resulting in a lack of knowledge regarding comorbidities, possible treatments, and appropriate care.

Methods: Data were available on 8,714 Enroll-HD participants (4,752 manifest, 1,862 pre-manifest, 1,089 genotype negative and 1,011 family controls) with a mean age of 49 years (range 18-91 years) Over 87% of the cohort self-identified as Caucasian; therefore, subsequent analyses were done in Caucasians alone (n=8,089).

Results: Overall, 4% had arthritis, 0.3% had MS, 46% drank alcohol, and 25% smoked. Manifest-HD participants were less likely to drink compared to pre-manifest, genotype negative and family controls (38%, 60%, 53%, and 54% respectively, p<0.001) and more likely to smoke (27%, 26% 20% and 18%, respectively, p<0.001). The prevalence of MS was lower among individuals with manifest HD than among pre-manifest and genotype negative individuals (0.2%, 0.4%, and 0.42% respectively). The prevalence of arthritis was similar among manifest HD, pre-manifest and genotype negative individuals, but not for family controls (~4% versus 7.4%, respectively).

Conclusions: In this study, individuals with manifest HD were less likely to drink alcohol and more likely to smoke than individuals in the other two groups, which is consistent with previous studies. However, the prevalence of MS or arthritis was not higher among those with manifest HD. Additional studies using serum markers of inflammation need to be performed to assess the potential associations of HD prognosis and of neuroinflammation.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Holliday, Michaelamah359@pitt.edumah359
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairKammerer, Candacecmk3@pitt.educmk3UNSPECIFIED
Committee MemberKuipers, Allisonkuipersa@edc.pitt.edukuipersaUNSPECIFIED
Date: 19 April 2018
Date Type: Completion
Number of Pages: 85
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Date Deposited: 31 May 2019 17:08
Last Modified: 31 May 2019 17:08


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