The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
Weight loss in Huntington disease increases with higher CAG repeat number
Abstract
OBJECTIVE: Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded number of CAG repeats in the huntingtin gene. A hallmark of HD is unintended weight loss, the cause of which is unknown. In order to elucidate the underlying mechanisms of weight loss in HD, we studied its relation to other disease characteristics including motor, cognitive, and behavioral disturbances and CAG repeat number. METHODS: In 517 patients with early stage HD, we applied mixed-effects model analyses to correlate weight changes over 3 years to CAG repeat number and various components of the Unified Huntington's Disease Rating Scale (UHDRS). We also assessed the relation between CAG repeat number and body weight and caloric intake in the R6/2 mouse model of HD. RESULTS: In patients with HD, mean body mass index decreased with -0.15 units per year (p < 0.001). However, no single UHDRS component, including motor, cognitive, and behavioral scores, was independently associated with the rate of weight loss. Patients with HD with a higher CAG repeat number had a faster rate of weight loss. Similarly, R6/2 mice with a larger CAG repeat length had a lower body weight, whereas caloric intake increased with larger CAG repeat length. CONCLUSIONS: Weight loss in Huntington disease (HD) is directly linked to CAG repeat length and is likely to result from a hypermetabolic state. Other signs and symptoms of HD are unlikely to contribute to weight loss in early disease stages. Elucidation of the responsible mechanisms could lead to effective energy-based therapeutics.
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Functional Interactions of Neurotrophins and Neurotrophin Receptors
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CAG repeat number governs the development rate of pathology in Huntington's disease
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Cited by
Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies
Jimenez-Sanchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024240 · Cited by 507
Shirendeb, U., Reddy, A. P., Manczak, M., Calkins, M. J., Mao, P., Tagle, D. A., & Hemachandra Reddy, P. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr024 · Cited by 409
Choosing an animal model for the study of Huntington's disease
Pouladi, M. A., Morton, A. J., & Hayden, M. R. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3570 · Cited by 356
Vercruysse, P., Vieau, D., Blum, D., Petersén, Å., & Dupuis, L. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00002 · Cited by 172
Huntington's disease: The current state of research with peripheral tissues
Sassone, J., Colciago, C., Cislaghi, G., Silani, V., & Ciammola, A. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.05.012 · Cited by 175
Metadata
- Authors
- Aziz, N. A., van der Burg, J. M. M., Landwehrmeyer, G. B., Brundin, P., Stijnen, T., EHDI Study Group, & Roos, R. A. C.
- Venue
- Neurology
- Published
- 2008-11-04
- Volume
- 71
- Issue
- 19
- Pages
- 1506-1513
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2042879634
- Cited by
- 261
- References
- 40
- FWCI
- 7.38
- Type
- journal article
- Language
- en
- Open access
- closed
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- Aziz, N. A., van der Burg, J. M. M., Landwehrmeyer, G. B., Brundin, P., Stijnen, T., EHDI Study Group, & Roos, R. A. C. (2008). Weight loss in Huntington disease increases with higher CAG repeat number. Neurology. https://doi.org/10.1212/01.wnl.0000334276.09729.0e
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