Braun M, Tupper D, Kaufman P, et al. Neuropsychological assessment: a valuable tool in the diagnosis and management of neurological, neurodevelopmental, medical, and psychiatric disorders. Cogn Behav Neurol. 2011;24(3):107.
Troster A, editor. Clinical neuropsychology and cognitive neurology of Parkinson’s disease and other movement disorders. New York, NY: Oxford University Press; 2015.
Paulsen JS, Langbehn DR, Stout JC, et al PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Detection of Huntington’s disease decades before diagnosis: the PREDICT-HD study. J Neurol Neurosurg Pyschiatry 2008;79:874-880.
Pringsheim T, Wiltshire K, Day L, et al. The incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Mov Disord. 2012;27(9):1083–91.
Harper PS. The epidemiology of Huntington’s disease. Hum Genet. 1992;89:365–76.
Vaccarino AL, Sills T, Anderson K, et al. Assessment of cognitive symptoms in prodromal and Huntington disease. PLoS Curr. 2011;25(3):RRN 1250.
Stout JC. (2011). Neurocognitive signs in prodromal Huntington disease. Neuropsychology. 2011;25(1):1–14.
MacLeod R, Tibben A, Frontali M, et al. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet. 2013;83:221–31.
Bates GP, MacDonald ME, Baxendale S, et al. Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet. 1991;49:7–16.
Wexler NS, Rose EA, Housman DE. Molecular approaches to hereditary diseases of the nervous system. Annu Rev Neurosci. 1991;14:503–29.
The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72:971–83.
Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington’s disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med. 1994;330:1401–6.
Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet. 1996;59:16–22.
Killoran A, Biglan KM, Jankovic J, et al. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. Neurology. 2013;80:2022–7.
Maat-Kievet A, Losekoot M, Van den Boer-Van den Berg H, et al. New problems in testing for Huntington’s disease: the issue of intermediate and reduced penetrance alleles. J Med Genet. 2001;38:E12.
Potter NT, Spector EB, Prior TW. Technical standards and guidelines for Huntington disease testing. Genet Med. 2004;6:61–5.
Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington’s disease. Nat Genet. 1993;4:387–92.
Brinkman RR, Mezei MM, Theilman J, Almqvist E, Hayden MR. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet. 1997;60:1202–10.
Langbehn DR, Brinkman RR, Falush D, et al. A new model for prediction of the age of onset and penetrance for Huntington’s disease based on CAG length. Clin Genet. 2004 Apr;65(4):267–77.
Rosenblatt A, Kumar BV, Mo A, et al. Age, CAG repeat length, and clinical progression in Huntington’s disease. Mov Disord. 2012;27(2):272–6.
Aylward EH, Nopoulos PC, Ross CA, et al. Longitudinal change in regional brain volumes in prodromal Huntington disease. J Neurol Neurosurg Psychiatry. 2011;82:405–10.
Dominguez DJF, Egan GF, Gray MA, et al. Multi-modal neuroimaging in premanifest and early Huntington’s disease: 18-month longitudinal data from the IMAGE-HD study. PLoS One. 2013;8(9):e74131.
Aylward EH, Rosenblatt A, Field K, et al. Caudate volume as an outcome measure in clinical trials for Huntington’s disease: a pilot study. Brain Res Bull. 2003;62:137–41.
Paulsen JS, Smith MM, Long JD. Cognitive decline in prodromal Huntington disease: implications for clinical trials. J Neurol Neurosurg Psychiatry. 2013;84(11):1233–9.
Folstein MF, Folstein SE, McHugh PR. “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12(3):189–98.
Nasreddine ZS, Phillips NA, Bedirian V, et al. The Montreal Cognitive Assessment, MoCA: a Brief Screening Tool for Mild Cognitive Impairment. J Am Geriatr Soc. 2005;53(4):695–9.
Haaland KY, Dum RP, Mutha PK, Strick PL, Troster AI. The neuropsychology of movement and movement disorders: neuroanatomical and cognitive considerations. J Int Neuropsychol Soc. 2017;23:768–77.
Duff K, Paulsen JS, Mills J, et al; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Mild cognitive impairment in prediagnosed Huntington disease. Neurology. 2010;75(6):500-507.
Montoya A, Price BH, Menear M, Lepage M. Brain imaging and cognitive dysfunctions in Huntington’s disease. J Psychiatry Neurosci. 2006;31(1):21–9.
Chen JJ, Salat DH, Rosas HD. Complex relationships between cerebral blood flow and brain atrophy in early Huntington’s disease. Neuroimage. Jan 2018;59(2):1043–51.
Paradiso S, Turner BM, Paulsen JS, Jorge R, Ponto LL, Robinson RG. Neural bases of dysphoria in early Huntington’s disease. Psychiatry Res. 2008;162(1):73–87.
Alosco ML, Gunstad J, Jerskey BA, et al. The adverse effects of reduced cerebral perfusion on cognition and brain structure in older adults with cardiovascular disease. Brain Behav. 2013;3(6):626–36.
Beglinger LJ, Nopoulos PC, Jorge RE, et al. White matter volume and cognitive dysfunction in early Huntington’s disease. Cogn Behav Neurol. 2005;18:102–7.
McColgan P, Seunarine KK, Gregory S, et al. Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington’s disease. JCI Insight. 2017;2(8):e92641.
Dominguez JF, Poudel G, Stout J, et al. Longitudinal changes in the fronto-striatal network are associated with executive dysfunction and behavioral dysregulation in Huntington’s disease: 30 months IMAGE-HD data. Cortex. 2017;92:139–49.
Bonner-Jackson A, Long JD, Westerveld H, et al. Cognitive reserve and brain reserve in prodromal Huntington’s disease. J Int Neuropsychol Soc. 2013;19:739–50.
Zhang Y, Long JD, Mills JA, Warner JH, Lu W, Paulsen; and PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Indexing disease progression at study entry with individuals at risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet. 2011;156(7):751-763.
Harrington DL, Smith MM, Zhang Y, Carlozzi NE, Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group. Cognitive domains that predict time to diagnosis in prodromal Huntington disease. J Neurol Neurosurg Psychiatry. 2012;83:612-619.
Heaton RK, Chelune GJ, Talley JL, Kay GG, Curtis G. Wisconsin card sort test: manual, revised and expanded. Psychological Assessment Resources; 1993.
Delis DC, Kaplan E, Kramer JH. Delis-Kaplan Executive Function System (D-KEFS) Examiner’s Manual. San Antonio, TX: The Psychological Corporation; 2001.
Meyers JE, Meyers K. RCFT: Rey complex figure test and recognition trial, professional manual. Psychological Assessment Resources; 1995.
Koziol LF, Budding DE. Subcortical structures and cognition: implications for neuropsychological assessment. New York, NY: Springer; 2009.
Ho AK, Sahakian BJ, Brown RG, et al. Profile of cognitive progression in early Huntington’s disease. Neurology. 2003;61:1702–6.
Papp KV, Snyder PJ, Mills JA, et al. Measuring executive dysfunction longitudinally and in relation to genetic burden, brain volumetrics, and depression in prodromal Huntington disease. Arch Clin Neuropsychol. 2013;28:156–68.
Nicoll DR, Pirogovsky E, Woods SP, et al. "Forgetting to remember" in Huntington’s disease: a study of laboratory, semi-naturalistic, and self-perceptions of prospective memory. J Int Neuropsychol Soc. 2014;20:192–9.
Raskin S. Memory for Intentions Screening Test: psychometric properties and clinical evidence. Brain Impairment. 2009;10(1):23–33.
Strange PG. Brain biochemistry and brain disorders. Oxford: Oxford University Press; 1992.
Peavy GM, Jacobson MW, Goldstein JL, et al. Cognitive and functional decline in Huntington’s disease: dementia criteria revisited. Mov Disord. 2010;25(9):1163–9.
Smith A. Symbol digit modalities test manual. Western Psychological Services; 1982.
Paulsen JS, Butters N, Sadek JR, et al. Distinct cognitive profiles of cortical and subcortical dementia in advanced illness. Neurology. 1995;45(5):951–6.
Ferm U, Sahlin A, Sundin L, Hartelius L. Using Talking Mats to support communication in personals with Huntington’s disease. Int J Lang Commun Disord. 2010;45(5):523–36.
Snowden JS, Craufurd D, Thompson J, Neary D. Psychomotor, executive, and memory function in preclinical Huntington’s disease. J Clin Exp Neuropsychol. 2002;24(2):133–45.
Snowden JS, Austin NA, Sembi S, Thompson JC, Craufurd D, Neary D. Emotion recognition in Huntington’s disease and frontotemporal dementia. Neuropsychologia. 2008;46(11):2638–49.
Grace J, Mallory P. FrSBe, Frontal Systems Behavior Scale: professional manual. Psychological Assessment Resources; 2001.
Lezak MD, Howieson DB, Bigler ED, Tranel D. Neuropsychological assessment: 5th edition. Oxford Press; 2012.
Stern Y. Cognitive reserve. Neuropsychologica. 2009;47(10):2015–28.
Koffler S, Morgan J, Baron IS, Greiffenstein MF. (eds) Neuropsychology: science and practice, I. Oxford Press; 2013.
Ionis Pharmaceuticals (2017). Dose-dependent reductions of mutant huntingtin protein observed; Ionis earns $45 million license fee. Press release of 11 December 2017. ir.ionispharma.com/news-releases. Accessed 25 Jan 2018.