- Progressive motor syndrome with parkinsonism (bradykinesia with one of tremor, gait disorder, stiffness)
- Additional features may include spasticity, gaze palsy, early dementia, early bulbar failure, dyspraxia, ataxia, postural hypotension, cortical sensory loss, brain iron accumulation on MRI brain
- Age at onset ≤=45 years or later onset with family history of similar condition in other family members
- Underlying cause not identified, e.g. structural brain lesion, Wilson disease
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:
- C9ORF72, GRN, MAPT in cases with a clinical presentation suggestive of cortico-basal/PSP syndrome
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List