Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment - PubMed (original) (raw)

. 2011 Jan;134(Pt 1):137-42.

doi: 10.1093/brain/awq280. Epub 2010 Oct 4.

Elizabeth H Aylward, Christopher A Ross, James A Mills, Douglas R Langbehn, Hans J Johnson, Vincent A Magnotta, Ronald K Pierson, Leigh J Beglinger, Martha A Nance, Roger A Barker, Jane S Paulsen; PREDICT-HD Investigators and Coordinators of the Huntington Study Group

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Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment

Peggy C Nopoulos et al. Brain. 2011 Jan.

Abstract

Huntington's disease is an autosomal dominant brain disease. Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvarium and is a representation of the maximal brain growth obtained during development. The current study reports intracranial volume obtained from an magnetic resonance imaging brain scan in a sample of subjects (n = 707) who have undergone presymptomatic gene testing. Participants who are gene-expanded but not yet manifesting the disease (prodromal Huntington's disease) are compared with subjects who are non-gene expanded. The prodromal males had significantly smaller intracranial volume measures with a mean volume that was 4% lower compared with controls. Although the prodromal females had smaller intracranial volume measures compared with their controls, this was not significant. The current findings suggest that mutant huntingtin can cause abnormal development, which may contribute to the pathogenesis of Huntington's disease.

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References

    1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-IV. Washington, DC: APA; 1994.
    1. Berrios GE, Wagle AC, Markova IS, Wagle SA, Ho LW, Rubinsztein DC, et al. Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers. Psychiatry Res. 2001;102:217–25. - PubMed
    1. Bhide PG, Day M, Sapp E, Schwarz C, Sheth A, Kim J, et al. Expression of normal and mutant huntingtin in the developing brain. J Neurosci. 1996;16:5523–35. - PMC - PubMed
    1. Bode FJ, Stephan M, Suhling H, Pabst R, Straub RH, Raber KA, et al. Sex differences in a transgenic rat model of Huntington's disease: decreased 17beta-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males. Hum Mol Genet. 2008;17:2595–609. - PubMed
    1. Bradley WG, Jr, Kortman KE, Burgoyne B. Flowing cerebrospinal fluid in normal and hydrocephalic states: appearance on MR images. Radiology. 1986;159:611–16. - PubMed

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