2003
DOI: 10.1007/s00415-003-0167-4
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MR evidence of structural and metabolic changes in brains of patients with Werner?s syndrome

Abstract: 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.

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Cited by 10 publications
(6 citation statements)
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“…The resultant neuropathology in these syndromes is not well characterized, although the syndromes produce quite dramatic and varying phenotypes outside of the nervous system, including cancer, progeria and proportional body size defects. In the case of WS, a neurological involvement has been reported but is controversial162-164. Why mutations in these helicases don't more substantially impact the nervous system is not clear.…”
Section: [8] Other Disorders Related To Dna Repair Deficitsmentioning
confidence: 99%
“…The resultant neuropathology in these syndromes is not well characterized, although the syndromes produce quite dramatic and varying phenotypes outside of the nervous system, including cancer, progeria and proportional body size defects. In the case of WS, a neurological involvement has been reported but is controversial162-164. Why mutations in these helicases don't more substantially impact the nervous system is not clear.…”
Section: [8] Other Disorders Related To Dna Repair Deficitsmentioning
confidence: 99%
“…46 EFEMP1 was originally cloned from senescent fibroblasts derived from a patient with Werner syndrome a disease of premature aging with diffuse structural abnormalities in the brain white matter. 47, 48 …”
Section: Discussionmentioning
confidence: 99%
“…Although neurodegenerative disease is not a major phenotype associated with WS, there are a number of studies reporting neurological pathologies associated with several WS patients. [63][64][65] Thus, the GSEA and the Ingenuity Pathway analysis (IPA) are two independent tools for data integration and visualization that provided converging results. They complemented each other and delivered a more detailed view of the biologial network affected by a WRN knock down.…”
Section: Methodsmentioning
confidence: 99%