Inherited white matter disorders


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 Inclusion Criteria:

  • Patients with a proven or suspected inherited white mater disorder on the basis of abnormal white matter on MR imaging reviewed by an expert neuroradiologist.
  • Relevant metabolic investigations completed, for example very long chain fatty acids, white cell enzymes and urine organic acids where indicated

 Exclusion Criteria:

  • Known genetic cause
  • Evidence of causative environmental cause, for example infection, hypoxia or inflammation
  • Phenotype indicative of other recruitable rare disorder, for example Cockayne syndrome or intracerebral calcification indicative of Aicardi-Goutiere’s syndrome, or a peroxisomal disorder, in which case recruit to relevant category

Prior genetic testing guidance

  •  Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • Guided by phenotype, for example PLP1 in males with a phenotype suggestive of Pelizaeus-Merzbacher disease or GJA1 in the presence of phenotypic features of oculodentodigital dysplasia.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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