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Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 2001 Sep;71(3):310–314. doi: 10.1136/jnnp.71.3.310

Neuropsychiatric aspects of Huntington's disease

J Paulsen 1, R Ready 1, J Hamilton 1, M Mega 1, J Cummings 1
PMCID: PMC1737562  PMID: 11511702

Abstract

OBJECTIVE—Neuropsychiatric symptoms are common in Huntington's disease and have been considered its presenting manifestation. Research characterising these symptoms in Huntington's disease is variable, however, encumbered by limitations within and across studies. Gaining a better understanding of neuropsychiatric symptoms is essential, as these symptoms have implications for disease management, prognosis, and quality of life for patients and caregivers.
METHOD—Fifty two patients with Huntington's disease were administered standardised measures of cognition, psychiatric symptoms, and motor abnormalities. Patient caregivers were administered the neuropsychiatric inventory.
RESULTS—Ninety eight per cent of the patients exhibited neuropsychiatric symptoms, the most prevalent being dysphoria, agitation, irritability, apathy, and anxiety. Symptoms ranged from mild to severe and were unrelated to dementia and chorea.
CONCLUSIONS—Neuropsychiatric symptoms are prevalent in Huntington's disease and are relatively independent of cognitive and motor aspects of the disease. Hypothesised links between neuropsychiatric symptoms of Huntington's disease and frontal-striatal circuitry were explored. Findings indicate that dimensional measures of neuropsychiatric symptoms are essential to capture the full range of pathology in Huntington's disease and are vital to include in a comprehensive assessment of the disease.



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Selected References

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  1. Andrew S. E., Goldberg Y. P., Hayden M. R. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet. 1997 Nov;6(12):2005–2010. doi: 10.1093/hmg/6.12.2005. [DOI] [PubMed] [Google Scholar]
  2. Caine E. D., Shoulson I. Psychiatric syndromes in Huntington's disease. Am J Psychiatry. 1983 Jun;140(6):728–733. doi: 10.1176/ajp.140.6.728. [DOI] [PubMed] [Google Scholar]
  3. Cha J. H., Kosinski C. M., Kerner J. A., Alsdorf S. A., Mangiarini L., Davies S. W., Penney J. B., Bates G. P., Young A. B. Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6480–6485. doi: 10.1073/pnas.95.11.6480. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cummings J. L. Behavioral and psychiatric symptoms associated with Huntington's disease. Adv Neurol. 1995;65:179–186. [PubMed] [Google Scholar]
  5. Cummings J. L. Frontal-subcortical circuits and human behavior. Arch Neurol. 1993 Aug;50(8):873–880. doi: 10.1001/archneur.1993.00540080076020. [DOI] [PubMed] [Google Scholar]
  6. Cummings J. L., Mega M., Gray K., Rosenberg-Thompson S., Carusi D. A., Gornbein J. The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia. Neurology. 1994 Dec;44(12):2308–2314. doi: 10.1212/wnl.44.12.2308. [DOI] [PubMed] [Google Scholar]
  7. Dewhurst K., Oliver J. E., McKnight A. L. Socio-psychiatric consequences of Huntington's disease. Br J Psychiatry. 1970 Mar;116(532):255–258. doi: 10.1192/bjp.116.532.255. [DOI] [PubMed] [Google Scholar]
  8. Di Maio L., Squitieri F., Napolitano G., Campanella G., Trofatter J. A., Conneally P. M. Suicide risk in Huntington's disease. J Med Genet. 1993 Apr;30(4):293–295. doi: 10.1136/jmg.30.4.293. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Folstein M. F., Folstein S. E., McHugh P. R. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975 Nov;12(3):189–198. doi: 10.1016/0022-3956(75)90026-6. [DOI] [PubMed] [Google Scholar]
  10. Folstein S. E., Folstein M. F. Psychiatric features of Huntington's disease: recent approaches and findings. Psychiatr Dev. 1983 Summer;1(2):193–205. [PubMed] [Google Scholar]
  11. Gutekunst C. A., Li S. H., Yi H., Mulroy J. S., Kuemmerle S., Jones R., Rye D., Ferrante R. J., Hersch S. M., Li X. J. Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J Neurosci. 1999 Apr 1;19(7):2522–2534. doi: 10.1523/JNEUROSCI.19-07-02522.1999. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Kaufer D. Beyond the cholinergic hypothesis: the effect of metrifonate and other cholinesterase inhibitors on neuropsychiatric symptoms in Alzheimer's disease. Dement Geriatr Cogn Disord. 1998;9 (Suppl 2):8–14. doi: 10.1159/000051193. [DOI] [PubMed] [Google Scholar]
  13. Leroi I., Michalon M. Treatment of the psychiatric manifestations of Huntington's disease: a review of the literature. Can J Psychiatry. 1998 Nov;43(9):933–940. doi: 10.1177/070674379804300909. [DOI] [PubMed] [Google Scholar]
  14. Levy M. L., Cummings J. L., Fairbanks L. A., Masterman D., Miller B. L., Craig A. H., Paulsen J. S., Litvan I. Apathy is not depression. J Neuropsychiatry Clin Neurosci. 1998 Summer;10(3):314–319. doi: 10.1176/jnp.10.3.314. [DOI] [PubMed] [Google Scholar]
  15. Levy M. L., Miller B. L., Cummings J. L., Fairbanks L. A., Craig A. Alzheimer disease and frontotemporal dementias. Behavioral distinctions. Arch Neurol. 1996 Jul;53(7):687–690. doi: 10.1001/archneur.1996.00550070129021. [DOI] [PubMed] [Google Scholar]
  16. Litvan I., Mega M. S., Cummings J. L., Fairbanks L. Neuropsychiatric aspects of progressive supranuclear palsy. Neurology. 1996 Nov;47(5):1184–1189. doi: 10.1212/wnl.47.5.1184. [DOI] [PubMed] [Google Scholar]
  17. Litvan I., Paulsen J. S., Mega M. S., Cummings J. L. Neuropsychiatric assessment of patients with hyperkinetic and hypokinetic movement disorders. Arch Neurol. 1998 Oct;55(10):1313–1319. doi: 10.1001/archneur.55.10.1313. [DOI] [PubMed] [Google Scholar]
  18. Middleton F. A., Strick P. L. Basal ganglia and cerebellar loops: motor and cognitive circuits. Brain Res Brain Res Rev. 2000 Mar;31(2-3):236–250. doi: 10.1016/s0165-0173(99)00040-5. [DOI] [PubMed] [Google Scholar]
  19. Nauta W. J., Mehler W. R. Projections of the lentiform nucleus in the monkey. Brain Res. 1966 Jan;1(1):3–42. doi: 10.1016/0006-8993(66)90103-x. [DOI] [PubMed] [Google Scholar]
  20. Paulsen J. S., Butters N., Sadek J. R., Johnson S. A., Salmon D. P., Swerdlow N. R., Swenson M. R. Distinct cognitive profiles of cortical and subcortical dementia in advanced illness. Neurology. 1995 May;45(5):951–956. doi: 10.1212/wnl.45.5.951. [DOI] [PubMed] [Google Scholar]
  21. Riso L. P., Klein D. N., Anderson R. L., Ouimette P. C., Lizardi H. Concordance between patients and informants on the personality disorder examination. Am J Psychiatry. 1994 Apr;151(4):568–573. doi: 10.1176/ajp.151.4.568. [DOI] [PubMed] [Google Scholar]
  22. Shiwach R. Psychopathology in Huntington's disease patients. Acta Psychiatr Scand. 1994 Oct;90(4):241–246. doi: 10.1111/j.1600-0447.1994.tb01587.x. [DOI] [PubMed] [Google Scholar]
  23. Swerdlow N. R., Koob G. F. Lesions of the dorsomedial nucleus of the thalamus, medial prefrontal cortex and pedunculopontine nucleus: effects on locomotor activity mediated by nucleus accumbens-ventral pallidal circuitry. Brain Res. 1987 Jun 2;412(2):233–243. doi: 10.1016/0006-8993(87)91129-2. [DOI] [PubMed] [Google Scholar]
  24. Vonsattel J. P., DiFiglia M. Huntington disease. J Neuropathol Exp Neurol. 1998 May;57(5):369–384. doi: 10.1097/00005072-199805000-00001. [DOI] [PubMed] [Google Scholar]

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