Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene

S J Chawda, R P J De Lange, M D Hourihan, S F S Halpin, D St Clair

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADA-SIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene.

Original languageEnglish
Pages (from-to)249-255
Number of pages7
JournalNeuroradiology
Volume42
Publication statusPublished - 2000

Keywords

  • cerebral autosomal dominant arteriopathy magnetic resonance imaging
  • AUTOSOMAL-DOMINANT ARTERIOPATHY
  • MULTI-INFARCT DEMENTIA
  • SURAL NERVE BIOPSY
  • SUBCORTICAL INFARCTS
  • LEUKOENCEPHALOPATHY CADASIL
  • SPECTRUM
  • MIGRAINE
  • LESIONS
  • STROKE
  • MUSCLE

Cite this

Chawda, S. J., De Lange, R. P. J., Hourihan, M. D., Halpin, S. F. S., & St Clair, D. (2000). Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene. Neuroradiology, 42, 249-255.

Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene. / Chawda, S J ; De Lange, R P J ; Hourihan, M D ; Halpin, S F S ; St Clair, D .

In: Neuroradiology, Vol. 42, 2000, p. 249-255.

Research output: Contribution to journalArticle

Chawda, SJ, De Lange, RPJ, Hourihan, MD, Halpin, SFS & St Clair, D 2000, 'Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene', Neuroradiology, vol. 42, pp. 249-255.
Chawda, S J ; De Lange, R P J ; Hourihan, M D ; Halpin, S F S ; St Clair, D . / Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene. In: Neuroradiology. 2000 ; Vol. 42. pp. 249-255.
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abstract = "Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADA-SIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene.",
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AB - Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADA-SIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene.

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KW - LESIONS

KW - STROKE

KW - MUSCLE

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