Early Onset and Familial Parkinsons disease

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Inclusion criteria:

  • Early onset (≤45 years of age) or history of other family member with Parkinson’s Disease
  • Bradykinesia plus at least one of rigidity, rest tremor and gait disturbance
  • May have concurrent dystonia (common in early onset PD)
  • May have positive family history or consanguinity
  • If complex features, e.g. spasticity, early dementia, gaze palsy, Neurodegeneration with Brain Iron Accumulation, please recruit to Complex Parkinsonism
  • May develop Lewy Body/PD type dementia

Individuals with severe or syndromic disease 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:

  • Underlying cause for clinical syndrome identified, e.g. cerebral palsy, dopa-responsive dystonia, structural brain lesion, Wilson disease, psychogenic dystonia.

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:

  • LRRK2 G2019S (dominant), PARK2 (parkin, recessive) and PINK1 (recessive). Clinical phenotype and family history to guide testing.

Closing statement 

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

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