Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL

  title={Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL},
  author={Mich{\`e}le Mayer and Andreas M. Straube and R. Br{\"u}ning and Ingo Uttner and Dieter E. Pongratz and Thomas Prof. Dr. Gasser and Martin Dichgans and Josef Mueller-Hoecker},
  journal={Journal of Neurology},
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a microangiopathic syndrome. Although the defective gene has been identified, genetic analysis may be effort some due to its large size and various mutations. Providing a reliable diagnostic marker would therefore be helpful. Electron microscopy has revealed characteristic electron-dense granular deposits in the basal lamina of vessels of patients with CADASIL. We investigated the sensitivity… CONTINUE READING
Highly Cited
This paper has 30 citations. REVIEW CITATIONS


Publications citing this paper.
Showing 1-10 of 13 citations


Publications referenced by this paper.
Showing 1-10 of 25 references

Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine

  • M Ebke, M Dichgans, M Bergmann
  • Genomics
  • 1997

tochondrial myopathy , encephalopathy , lactic acidosis and stroke like episodes ( MELAS ) : a distinctive clinical syndrome

  • A Rubio, D Rifkin, JM Powers
  • Ann Neurol
  • 1997

: a clinicopathological study

  • M Bergmann, M Ebke, Y Yuan, W Brück, M Mugler, G Schwendemann
  • 1996