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J Neurol. 2003 Oct;250(10):1169-73.

MR evidence of structural and metabolic changes in brains of patients with Werner's syndrome.

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  • 1Dept. of Neurological & Behavioral Sciences, University of Siena, Siena, Italy.



To assess CNS abnormalities in patients with Werner's syndrome (WS) using MR metrics specific for tissue damage.


WS is a rare autosomal recessive disorder that causes premature aging. The CNS involvement in this disease is still debated.


Two siblings who showed signs of neurological involvement underwent MR spectroscopic imaging (MRSI) and magnetization transfer (MT) imaging. Also, on conventional T1-weighted MR images, measurements of total brain volume were performed.


Conventional MR images of both WS patients did not show abnormalities on visual inspection. However, both WS patients showed significantly lower values of normalized total brain volume and MT ratio in the white matter than age-matched normal controls. Also, proton MRSI showed significantly lower values of central brain NAA/Cr in WS patients than in normal controls.


Our findings suggest that, despite normal appearance on conventional MRI, diffuse structural and metabolic tissue damage can be demonstrated in WS brains by means of sensitive MR methods even in patients with moderate or subclinical CNS involvement.

[PubMed - indexed for MEDLINE]
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