INCIDENCE & PREVALENCE

 

 

• Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves, Jette N. The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis. Mov Disord. 27:1083-91, 2012. [PubMed: 22692795]

 

• Wexler NS1, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 101: 3498-503, 2004. [PubMed: 14993615]

 

• Pêcheux C1, Mouret JF, Dürr A, Agid Y, Feingold J, Brice A, Dodé C, Kaplan JC. Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes. J Med Genet. 32:399-400, 1995. [PubMed: 7616551]

 

• Zheng Z, Burgunder J, Shang H, Guo X. Huntington’s like conditions in China, A review of published Chinese cases. PLOS Currents Huntington Disease. 2012 Feb 15. Edition 1. doi: 10.1371/currents.RRN1302. [PubMed: 22453898]

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• Warby SC, Montpetit A, Hayden AR, Carroll JB, Butland SL, Visscher H, Collins JA, Semaka A, Hudson TJ, Hayden MR. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet.84:351-66, 2009. [PubMed: 19249009]

 

• Reedeker, N., Bouwens, JA., Van Dujin, E. Giltay, EJ., Roos, RA., Van der Mast, RC. Incidence, Course, and Predictors of Apathy in Huntington's Disease: A Two-Year Prospective Study. The Journal of Neuropsychiatry and Clinical Neurosciences. 2011 Sep;23(4):434-441. [Pubmed: 22231315 ]

 

 

 

EPIDEMIOLOGY

 

• Paulsen, J. S., Ready, R. E., Hamilton, J. M., Mega, M. S., & Cummings, J. L. (2001). Neuropsychiatric aspects of Huntington's disease. Journal of Neurology, Neurosurgery & Psychiatry, 71(3), 310-314. [Pubmed:11511702]

 

 

 

DIAGNOSIS

 

 

• Rupp J, Blekher T, Jackson J, Beristain X, Marshall J, Hui S, Wojcieszek J, Foroud T. Progression in prediagnostic Huntington disease. J Neurol Neurosurg Psychiatry. 81: 379-84, 2010. [PubMed: 19726414]

 

• Margolis RL, Ross CA. Diagnosis of Huntington disease. Clin Chem. 49:1726-32, 2003. [PubMed: 14500613]

 

• Ross, R. Huntington's disease: a clinical review. Orphanet Journal of Rare Diseases. 5:40, 2010. [Full text]

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• Paulsen, J. Early detection of Huntington disease. Future Neurology. 5: 85-104, 2010. [PubMed: 19726414]

 

• Potter NT, Spector EB, Prior TW. Technical standards and guidelines for Huntington disease testing. Genet Med. 6:61-5, 2004. [PubMed: 14726813]

 

• Martino D, Stamelou M, Bhatia KP. J Neurol Neurosurg Psychiatry 2013; 84 650-656. [PubMed: 22993450]

 

• Paulsen, J. S. (2009). Functional imaging in Huntington's disease.Experimental neurology, 216(2), 272-277. [PubMed: 19171138]

 

 

 

 

​THERAPEUTIC MANAGEMENT 

 

 

• Friedlander, R. M. Apoptosis and caspases in neurodegenerative diseases. New Eng. J. Med. 348: 1365-1375, 2003. [PubMed:12672865]

 

• Ravikumar, B., Stewart, A., Kita, H., Kato, K., Duden, R., Rubinsztein, D. C. Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy. Hum. Molec. Genet. 12: 985-994, 2003. [PubMed: 12700167]

 

• Cheng, P.-H., Li, C.-L., Chang, Y.-F., Tsai, S.-J., Lai, Y.-Y., Chan, A. W. S., Chen, C.-M., Yang, S.-H. miR-196a ameliorates phenotypes ofHuntington disease in cell, transgenic mouse, and induced pluripotent stem cell models. Am. J. Hum. Genet. 93: 306-312, 2013. [PubMed: 23810380]

 

• Frank,S. Tetrabenazine as anti-chorea therapy in Huntington disease: an open-label continuation study. Huntington Study Group/TETRA-HD Investigators. BMC Neurol. 9:62, 2009 [PubMed: 20021666]

 

• Curtis,M.A., Penney,E.B., Pearson,A.G., van Roon-Mom,W.M., Butterworth,N.J., Dragunow,M., Connor,B. and Faull,R.L. (2003) Increased cell proliferation and neurogenesis in the adult human Huntington’s disease brain. Proc. Natl. Acad. Sci. U.S.A., 100, 9023–9027. [PubMed: 12853570]