Hereditary ataxia


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Inclusion criteria:

  • Unexplained cerebellar ataxia progressing over >2 years +/- spasticity, peripheral neuropathy, or bulbar dysfunction.

Individuals with syndromic disease or disease onset <30 years should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion criteria:

  • No structural or inflammatory (MS-like) lesions on brain MRI.
  • No history of alcohol excess.
  • Normal thyroid function.
  • No evidence of malignancy.

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 for genes which are affected by trinucleotide repeats is strongly recommended PRIOR TO RECRUITMENT as these will not be reliably detected by WGS using current analysis techniques including:

  • Common trinucleotide repeat disorders excluded (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1, FXN (only recessive history), FMR1

Closing statement

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

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