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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

D Guidetti1, B Casali, R L Mazzei

  • 1Divisione di Neurologia, Azienda Ospedaliera Santa Maria Nuova, Reggio Emilia, Italy. sno.dona@iol.it

Clinical and Experimental Hypertension (New York, N.Y. : 1993)
|July 13, 2006
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition causing stroke and dementia. Diagnosis can be challenging due to varying GOM detection rates in studies.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, inherited neurological disorder.
  • It is characterized by migraines, recurrent strokes, subcortical dementia, and pseudobulbar palsy.
  • CADASIL is often underdiagnosed due to its relatively recent identification and varied clinical presentations.

Purpose of the Study:

  • To review the diagnostic challenges and pathological hallmarks of CADASIL.
  • To discuss the role of granular osmiophilic material (GOM) in diagnosis.
  • To highlight the genetic basis and imaging findings associated with CADASIL.

Main Methods:

  • Review of literature on CADASIL pathology, genetics, and imaging.
  • Analysis of diagnostic criteria and controversies, including electron microscopy findings.
  • Correlation of clinical symptoms with genetic and radiological data.

Main Results:

  • The pathological hallmark includes multiple small, deep cerebral infarcts and nonatherosclerotic angiopathy.
  • Granular osmiophilic material (GOM) in vascular smooth muscle cells is a key ultrastructural finding.
  • Magnetic resonance imaging (MRI) reveals characteristic white matter lesions and cystic degeneration.
  • Diagnostic discrepancies exist regarding GOM detection rates in different patient cohorts.

Conclusions:

  • CADASIL diagnosis relies on a combination of clinical, genetic, and imaging findings.
  • The presence of GOM is a significant diagnostic marker, though its detection can vary.
  • Further standardization of diagnostic strategies is needed for accurate and timely CADASIL identification.

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