MR relaxometry in Huntington's disease: correlation between imaging, genetic and clinical parameters.

Full Abstract

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease. It has been hypothesized that changes of iron content in the brain may be involved in the pathogenesis of HD. To ascertain the hypothesis, we investigated the relationship between T2 relaxation time (T2), the number of cytosine-adenine-guanine triplet repeats (CAG) and clinical status in patients suffering from HD. 34 HD patients (mean age 50.1+/-11.8 standard deviation (SD) years) and 34 control subjects (49.6+/-13.3) were scanned using a 1.5 tesla magnetic resonance (MR) scanner and the patients underwent clinical and genetic testing. A multiple echo sequence was employed for T2 measurements. T2 from healthy volunteers matched previous studies. A T2 shortening was found in the pallidum of HD patients compared to controls (65.4+/-6.4 ms vs. 71.8+/-3.6 ms, P<0.00001). A correlation between the number of CAG and T2 was found for the left pallidum (decrease in T2, P<0.05) and an inverse correlation for the left caudate (increase in T2, P<0.05). In HD patients, alterations in iron levels may be caused by an alteration in its axonal transport. The observed T2/CAG covariations may reflect changes in levels and forms of iron:
this suggests that HD patients with a higher genetic load have more ferritin-bound ("safe form") iron in the pallidum and/or more low-molecular ("toxic") iron in the caudate. An increase in "toxic" iron in the caudate may enable oxidative stress and thus underlie progression of the disease.

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Author information

Author/s: Vymazal, Josef (J); Klempír, Jirí (J); Jech, Robert (R); Zidovská, Jana (J); Syka, Michael (M); Ruzicka, Evzen (E); Roth, Jan (J);

Affiliation: Department of MRI, Na Homolce Hospital, Prague, Czech Republic. Josef.Vymazal(-atsign-)homolka.cz

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Journal of the neurological sciences (J Neurol Sci), published in Netherlands. (Language: eng)

Reference: 2007-Dec; vol 263 (issue 1-2) : pp 20-5

Dates: Created 2007/11/06; Completed 2008/02/14;

PMID: 17585943, status: MEDLINE (last retrieval date: 11/6/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult
Aged
Case-Control Studies
Caudate Nucleus - metabolism; pathology
Female
Humans
Huntington Disease - genetics; pathology; physiopathology
Iron - metabolism

Iron - metabolism
Magnetic Resonance Imaging
Male
Middle Aged
Relaxation
Severity of Illness Index
Statistics as Topic
Trinucleotide Repeat Expansion

Associated Chemicals: Iron (7439-89-6)

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