rss
J Neurol Neurosurg Psychiatry 83:1180-1185 doi:10.1136/jnnp-2012-302545
  • Cerebrovascular disease
  • Research paper

7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL

  1. Jeroen van der Grond1
  1. 1Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands
  2. 2Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
  3. 3Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands
  4. 4Department of Neurology of Rijnland Hospital, Leiderdorp, the Netherlands
  1. Correspondence to Dr Michael K Liem, Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333ZA Leiden, the Netherlands; m.k.liem{at}lumc.nl
  1. Contributors ML contributed to conception and design of the study, designed data collection tools, monitored data collection for the whole trial, collected the data, wrote the statistical analysis plan, analysed the data, and drafted and revised the paper. He is guarantor. SL contributed to conception and design of the study, monitored data collection for the whole trial, collected the data, analysed the data, drafted and revised the paper. She is guarantor. MV designed data collection tools, collected the data, revised the drafted paper. MM designed data collection tools, collected the data, analysed the data, revised the drafted paper. JH contributed to conception and design of the study and revised the drafted paper. AW contributed to conception and design of the study, designed data collection tools, revised the drafted paper. MF contributed to conception and design of the study and revised the drafted paper. MvB contributed to conception and design of the study, revised the drafted paper. He is guarantor. JvdG contributed to conception and design of the study, designed data collection tools, monitored data collection for the whole trial, collected the data, analysed the data, drafted and revised the paper. He is guarantor.

  • Received 16 February 2012
  • Revised 7 June 2012
  • Accepted 25 July 2012
  • Published Online First 25 August 2012

Abstract

Objective Diffuse iron deposition in the brain is commonly found in older people. One of the possible mechanisms that contribute to this iron deposition is cerebral small vessel disease. The aim of this study is to quantify diffuse iron deposition in patients with the hereditary small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Methods 25 NOTCH3 mutation carriers and 18 healthy controls were examined using high-resolution T2*-weighted imaging on a 7 T whole body MRI scanner. Susceptibility-weighted MRI scans were analysed for areas of signal loss and increased phase shift. Phase shift measurements in deep grey nuclei, cortex and subcortical white matter were compared between mutation carriers and controls. For confirmation, ex vivo brain specimens from another three patients with CADASIL were analysed for iron deposition using ex vivo MRI combined with iron histochemistry.

Results In vivo MRI showed areas of decreased signal intensity and increased phase shift in mutation carriers. Compared with healthy controls, mutation carriers had significantly higher phase shift in the putamen (p=0.0002) and caudate nucleus (p=0.006). Ex vivo MRI showed decreased signal intensity in the putamen and caudate nucleus in all specimens. Histochemistry confirmed the presence of iron deposition in these nuclei.

Conclusions This study demonstrates increased diffuse iron accumulation in the putamen and caudate nucleus in patients with the small vessel disease CADASIL. This supports the hypothesis that small vessel disease contributes to the process of increased iron accumulation in the general population.

Footnotes

  • Competing interests None.

  • Ethics approval Ethics approval was provided by Medical ethics committee of the Leiden University Medical Center.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Podcasts
Visit the full archive of podcasts for JNNP here >>

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JNNP.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Navigate This Article