Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Huntington Disease Dementia Workup

  • Author: Idan Sharon, MD; Chief Editor: David Bienenfeld, MD  more...
 
Updated: Apr 18, 2014
 

Laboratory Studies

See the list below:

  • DNA repeat expansion
    • This study forms the basis of a diagnostic blood test for the HD gene. Direct gene testing via polymerase chain reaction can identify the HD gene and carrier states.
    • In addition to being a sensitive indicator of the inheritance of HD, CAG expansion is also highly specific because it is not observed in other neuropsychiatric disorders with which HD frequently is confused.
  • Dopamine homovanillic acid
    • In 1986, Stahl et al measured the dopamine metabolite homovanillic acid (HVA) in cerebrospinal fluid (CSF) before and after probenecid administration in healthy controls and in patients with HD.[9] Baseline CSF-HVA concentrations correlated positively with age in healthy control subjects. Baseline CSF-HVA concentrations were reduced in patients with HD, and the degree of this reduction correlated with the severity of dementia and with the duration of the disease.
    • In 1995, a study conducted in Spain also showed that the mean levels of HVA in the CSF of patients with HD were reduced significantly compared with those from healthy controls, patients with dystonia, individuals with other neurologic diseases, and even patients with untreated PD.[10] The clinical relevance and practicality of these findings need further research. Data suggest reduced dopamine neurotransmission in persons with HD, and this may account for the bradykinesia observed in these patients.
Next

Imaging Studies

See the list below:

  • Computed tomography or magnetic resonance imaging
    • In fully developed cases, these studies show cerebral atrophy, especially of the caudate and putamen, to a degree that is almost specific to the disease.
    • In patients with mild-to-moderate HD, subcortical atrophy observed on an MRI is significantly correlated with specific cognitive deficits and demonstrates that cortical atrophy has an important association with the cognitive deficits in patients with HD.
    • Radiographically, caudate atrophy leads to the typical dilation of the frontal horns of the lateral ventricles; however, the sensitivity of a CT scan is insufficient to justify its role in the investigation of patients with suspected HD, unless genetic test findings and other diagnoses need to be excluded.
  • Single-photon emission computed tomography scanning
    • Studies using single-photon emission computed tomography scans show a decrease in glucose metabolism and cerebral blood flow in the caudate nucleus greater than that of the putamen.
    • Additionally, position emission tomography scanning shows decreased D1 and D2 dopamine receptor binding sites in patients with HD. This study may provide a means to track early signs of decline in individuals with the HD gene mutation prior to clinical onset.
Previous
Next

Other Tests

See the list below:

  • Wechsler Memory Scale-Revised
    • Verbal and visual delayed recall on the logical memory and visual reproduction subtests of the Wechsler Memory Scale-Revised test are the 2 most sensitive neuropsychological tasks for indexing cognitive dysfunction in patients with HD.
    • Contrary to the poor performance of patients with AD on both recall and recognition measures, the pattern of results suggests that patients with HD have only mild-to-moderate memory impairment that results from a retrieval deficit due to frontal-striatal dysfunction.
  • Wisconsin Card Sorting Test: Performance on the Wisconsin Card Sorting Test has shown to be able to discriminate approximately 82% of patients with HD from healthy controls. In keeping with the clinical and neuropathological features of HD, this pattern is consistent with the widespread cognitive alterations expected from frontal-subcortical circuit dysfunction.
  • Trail-Making Test parts A and B versus Stroop tests: Results from tests of attention (eg, Trail-Making Test parts A and B) show moderate impairment in patients with HD. Performance on the Stroop test is more sensitive than the Trail-Making Test to attention and/or concentration deficit in patients with HD.
  • In summary, patients with HD are most deficient on tests of delayed recall, followed by performance on measures of memory acquisition, cognitive flexibility and abstraction, manual dexterity, attention and/or concentration, performance skills, and verbal skills.
Previous
Next

Histologic Findings

The disease predominantly strikes the striatum. Gliosis and neuronal loss occur, especially of medium-sized spiny neurons in the caudate and putamen. Relative sparing of large, cholinergic, aspiny neurons occurs.

Previous
 
 
Contributor Information and Disclosures
Author

Idan Sharon, MD Consulting Staff, Departments of Neurology and Psychiatry, Cornell New York Methodist Hospital; Private Practice

Idan Sharon, MD is a member of the following medical societies: American Academy of Neurology, Medical Society of the State of New York

Disclosure: Nothing to disclose.

Coauthor(s)

Tulay Ersan, MD Chief of Geriatrics, Department of Internal Medicine, Division of Geriatrics, Monmouth Medical Center

Tulay Ersan, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Geriatrics Society, American Medical Association

Disclosure: Nothing to disclose.

Roni Sharon, MD Fellow, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School

Roni Sharon, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, American Headache Society, International Headache Society

Disclosure: Nothing to disclose.

Jaclyn P Wilkens Hofstra University

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

David Bienenfeld, MD Professor, Departments of Psychiatry and Geriatric Medicine, Wright State University, Boonshoft School of Medicine

David Bienenfeld, MD is a member of the following medical societies: American Medical Association, American Psychiatric Association, Association for Academic Psychiatry

Disclosure: Nothing to disclose.

Additional Contributors

Alan D Schmetzer, MD Professor Emeritus, Department of Psychiatry, Indiana University School of Medicine

Alan D Schmetzer, MD is a member of the following medical societies: American Academy of Addiction Psychiatry, American Academy of Clinical Psychiatrists, American Academy of Psychiatry and the Law, American Association for Physician Leadership, American Medical Association, American Psychiatric Association, International Society for ECT and Neurostimulation, American Neuropsychiatric Association

Disclosure: Nothing to disclose.

References
  1. Lipe H, Bird T. Late onset Huntington Disease: clinical and genetic characteristics of 34 cases. J Neurol Sci. 2009 Jan 15. 276(1-2):159-62. [Medline].

  2. Quintanilla RA, Johnson GV. Role of mitochondrial dysfunction in the pathogenesis of Huntington's disease. Brain Res Bull. 2009 Oct 28. 80(4-5):242-7. [Medline]. [Full Text].

  3. Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns. 2007 Mar. 65(3):279-87. [Medline].

  4. Driver-Dunckley E, Caviness JN. Huntington's Disease. Schapira AHV. Neurology and Clinical Neuroscience. Elsevier; 2007. 67: 879-885.

  5. Jason GW, Suchowersky O, Pajurkova EM, et al. Cognitive manifestations of Huntington disease in relation to genetic structure and clinical onset. Arch Neurol. 1997 Sep. 54(9):1081-8. [Medline].

  6. van Duijn E, Reedeker N, Giltay EJ, Roos RA, van der Mast RC. Correlates of apathy in Huntington's disease. J Neuropsychiatry Clin Neurosci. 2010 Summer. 22(3):287-94. [Medline].

  7. Solomon AC, Stout JC, Johnson SA, Langbehn DR, Aylward EH, Brandt J, et al. Verbal episodic memory declines prior to diagnosis in Huntington's disease. Neuropsychologia. 2007 Apr 9. 45(8):1767-76. [Medline]. [Full Text].

  8. Peavy GM, Jacobson MW, Kane AE, Goldstein JL, Mickes L, Lessig S, et al. Proposed Criteria for the Diagnosis of Dementia Associated With Huntington's Disease (HD). Neurotherapeutics. 2008. 5:373.

  9. Stahl SM, Thiemann S, Faull KF, Barchas JD, Berger PA. Neurochemistry of dopamine in Huntington's dementia and normal aging. Arch Gen Psychiatry. 1986 Feb. 43(2):161-4. [Medline].

  10. Garcia Ruiz PJ, Mena MA, Sanchez Bernardos V, Diaz Neira W, Gimenez Roldan S, Benitez J, et al. Cerebrospinal fluid homovanillic acid is reduced in untreated Huntington's disease. Clin Neuropharmacol. 1995 Feb. 18(1):58-63. [Medline].

  11. Vattakatuchery JJ, Kurien R. Acetylcholinesterase inhibitors in cognitive impairment in Huntington's disease: A brief review. World J Psychiatry. 2013 Sep 22. 3(3):62-4. [Medline]. [Full Text].

  12. Bachoud-Levi AC, Remy P, Nguyen JP, Brugieres P, Lefaucheur JP, Bourdet C, et al. Motor and cognitive improvements in patients with Huntington's disease after neural transplantation. Lancet. 2000 Dec 9. 356(9246):1975-9. [Medline].

  13. Adam OR, Jankovic J. Symptomatic treatment of Huntington disease. Neurotherapeutics. 2008 Apr. 5(2):181-97. [Medline].

  14. Ranen NG, Lipsey JR, Treisman G, Ross CA. Sertraline in the treatment of severe aggressiveness in Huntington's disease. J Neuropsychiatry Clin Neurosci. 1996 Summer. 8(3):338-40. [Medline].

  15. Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns. 2007 Mar. 65(3):279-87. [Medline].

  16. Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, et al. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ. 2009 Jun 9. 338:b2175. [Medline]. [Full Text].

  17. Coulson NS, Buchanan H, Aubeeluck A. Social support in cyberspace: a content analysis of communication within a Huntington's disease online support group. Patient Educ Couns. 2007 Oct. 68(2):173-8. [Medline].

  18. [Guideline] American Psychiatric Association. Practice guideline for the treatment of patients with Alzheimer's disease and other dementias of late life. Am J Psychiatry. 1997 May. 154(5 Suppl):1-39. [Medline].

  19. Bamford KA, Caine ED, Kido DK, Cox C, Shoulson I. A prospective evaluation of cognitive decline in early Huntington's disease: functional and radiographic correlates. Neurology. 1995 Oct. 45(10):1867-73. [Medline].

  20. Barami K, Hutchins KD, Lyman WD. Neurotransmitter distribution in the second trimester fetal human corpus striatum. Neurol Res. 2001 Jan. 23(1):16-22. [Medline].

  21. Barnoy S, Tabak N. Israeli nurses and genetic information disclosure. Nurs Ethics. 2007 May. 14(3):280-94. [Medline].

  22. Biglan K, Shoulson I. Juvenile-onset huntington disease: a matter of perspective. Arch Neurol. 2007 Jun. 64(6):783-4. [Medline].

  23. Chou KL, Borek LL, Friedman JH. The management of psychosis in movement disorder patients. Expert Opin Pharmacother. 2007 May. 8(7):935-43. [Medline].

  24. Folstein S. Huntington's Disease: A Disorder of Families. Baltimore, Md: Johns Hopkins University Press; 1989.

  25. Folstein SE. The psychopathology of Huntington's disease. Res Publ Assoc Res Nerv Ment Dis. 1991. 69:181-91. [Medline].

  26. Frank S, Biglan K. Long-term fetal cell transplant in Huntington disease: stayin' alive. Neurology. 2007 Jun 12. 68(24):2055-6. [Medline].

  27. Gilroy J. Basic Neurology. 3rd ed. New York, NY: McGraw-Hill; 2000.

  28. Gustavson AR, Cummings JL. Cholinesterase inhibitors in non-Alzheimer dementias. J Am Med Dir Assoc. 2003 Nov-Dec. 4(6 Suppl):S165-9. [Medline].

  29. Hahn-Barma V, Deweer B, Durr A, Dode C, Feingold J, Pillon B, et al. Are cognitive changes the first symptoms of Huntington's disease? A study of gene carriers. J Neurol Neurosurg Psychiatry. 1998 Feb. 64(2):172-7. [Medline].

  30. Hakimian R. Disclosure of Huntington's disease to family members: the dilemma of known but unknowing parties. Genet Test. 2000. 4(4):359-64. [Medline].

  31. Harper P. Huntington's disease. Harper P, ed. Major Problems of Neurology. 2nd ed. Philadelphia, Pa: WB Saunders; 1996.

  32. Harris GJ, Codori AM, Lewis RF, Schmidt E, Bedi A, Brandt J. Reduced basal ganglia blood flow and volume in pre-symptomatic, gene-tested persons at-risk for Huntington's disease. Brain. 1999 Sep. 122 ( Pt 9):1667-78. [Medline].

  33. Hodges JR, Salmon DP, Butters N. Differential impairment of semantic and episodic memory in Alzheimer's and Huntington's diseases: a controlled prospective study. J Neurol Neurosurg Psychiatry. 1990 Dec. 53(12):1089-95. [Medline]. [Full Text].

  34. Kallail KJ, Godfrey NE, Suter G, Anthimides L. A multidisciplinary approach to the management of Huntington's disease. Kans Med. 1989 Nov. 90(11):309-11. [Medline].

  35. Kirkwood SC, Su JL, Conneally P, Foroud T. Progression of symptoms in the early and middle stages of Huntington disease. Arch Neurol. 2001 Feb. 58(2):273-8. [Medline].

  36. Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, et al. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med. 1994 May 19. 330(20):1401-6. [Medline].

  37. Marder K, Zhao H, Myers RH, Cudkowicz M, Kayson E, Kieburtz K, et al. Rate of functional decline in Huntington's disease. Huntington Study Group. Neurology. 2000 Jan 25. 54(2):452-8. [Medline].

  38. Mayeux R, ed. Dementias: Advances in Neurology. New York, NY: Raven; 1983. 38 Vol:

  39. Meiser B, Dunn S. Psychological impact of genetic testing for Huntington''s disease: an update of the literature. J Neurol Neurosurg Psychiatry. 2000 Nov. 69(5):574-8. [Medline].

  40. Nance MA. Huntington disease: clinical, genetic, and social aspects. J Geriatr Psychiatry Neurol. 1998 Summer. 11(2):61-70. [Medline].

  41. Nehl C, Paulsen JS. Cognitive and psychiatric aspects of Huntington disease contribute to functional capacity. J Nerv Ment Dis. 2004 Jan. 192(1):72-4. [Medline].

  42. Ramaswamy S, Shannon KM, Kordower JH. Huntington's disease: pathological mechanisms and therapeutic strategies. Cell Transplant. 2007. 16(3):301-12. [Medline].

  43. Ribai P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, Legout A, et al. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol. 2007 Jun. 64(6):813-9. [Medline].

  44. Rosenstein LD. Differential diagnosis of the major progressive dementias and depression in middle and late adulthood: a summary of the literature of the early 1990s. Neuropsychol Rev. 1998 Sep. 8(3):109-67. [Medline].

  45. Sharma P, Savy L, Britton J, Taylor R, Howick A, Patton M. Huntington's disease: a molecular genetic and CT comparison. J Neurol Neurosurg Psychiatry. 1996 Feb. 60(2):206-8. [Medline].

  46. Sorensen SA, Fenger K, Olsen JH. Significantly lower incidence of cancer among patients with Huntington disease: An apoptotic effect of an expanded polyglutamine tract?. Cancer. 1999 Oct 1. 86(7):1342-6. [Medline].

  47. Starkstein SE, Brandt J, Bylsma F, Peyser C, Folstein M, Folstein SE. Neuropsychological correlates of brain atrophy in Huntington's disease: a magnetic resonance imaging study. Neuroradiology. 1992. 34(6):487-9. [Medline].

  48. Swash M. Clinical Neurology. New York, NY: Churchill Livingstone; 1991.

  49. Tian J, Herdman SJ, Zee DS, Folstein SE. Postural stability in patients with Huntington's disease. Neurology. 1992 Jun. 42(6):1232-8. [Medline].

  50. Zakzanis KK. The subcortical dementia of Huntington's disease. J Clin Exp Neuropsychol. 1998 Aug. 20(4):565-78. [Medline].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.