The aim of RISCA is to answer the following questions:

  1. What is the incidence of disease manifestation in mutation carriers?
  2. Which clinical signs precede the onset of manifest ataxia in SCA1, SCA2, SCA3 and SCA6?
  3. What are the prevalence and incidence of preceding signs?
  4. Are the prevalence and incidence of preceding signs affected by genotype, gender, age, estimated time until disease manifestation and repeat length?
  5. Does the presence of certain preceding signs predict the manifestation of ataxia?
  6. Are there MRI alterations that precede the onset of ataxia?

Study participants are followed at 24 months intervals over six years and than at irregular intervals. At each visit, study participants are asked in a structured interview for a number of predefined clinical signs that potentially precede the onset of ataxia.

Last update – 26/05/2017 

The AMPLE study has been set up to investigate differences and outcomes in those with Lewy body dementia with and without concurrent Alzheimer’s disease/pathology. The principle aim of AMPLE is to undertake amyloid PET imaging in Lewy Body Dementia (LBD) and Alzheimer’s disease (AD) of 80 participants over the age of 60 and investigate the distribution of amyloid burden in LBD relative to AD and controls at baseline. A further aim is to determine the relationship between amyloid levels at baseline, clinical features of the disease, other imaging changes and subsequent clinical course in follow up.

Primary analysis would divide LBD patients into high and low amyloid burden with participants then compared on clinical features with AD-like symptoms and cognitive profiles. Follow up will be completed annually through surveys and clinical examinations.

Last update – 01/02/2017