Table 7.
Source/ condition | Design | Population/ denominator | Timescale | Case ascertainment method | Diagnostic method | Outcome |
---|---|---|---|---|---|---|
Schrag et al. (1999) [12] MSA/PSP | Population-based study of incidence and prevalence | 15 general practices from a linkage scheme in the London region; population of 121,608 | Prevalence on July 1, 1997 | Computerised records screened, with deliberate overascertainment to include all possible cases; neurologist reviewed eligible records and excluded where appropriate; 241 eligible patients, 202 agreed to be assessed for diagnosis | Computerised records reviewed; neurological interview and assessment including questionnaires and video to capture neurological symptoms; longitudinal assessments to identify developing symptoms of conditions |
|
Craig et al. (2004) [11] SCA6 | Population-based study of prevalence | North-east government region; population of 2,516,500 | Prevalence on June 30, 2001 | SCA6 families identified and studied | Molecular genetic and haplotype analyses | 32 affected individuals from 16 genealogically distinct families; DNA only available for 26; minimum prevalence of 1.59/100,000 (95% CI: 1.04–2.14) in population aged over 16 years, and of 3.18/100,000 (95% CI: 2.08–4.28) in those >45 years old |
Craig et al. (2005) [10] SCA17 | Population-based study of prevalence | North-east government region; population of 2,516,500 | Prevalence on June 30, 2001 | 192 families with undiagnosed ataxia and 90 families with suspected Huntington's disease studied | Molecular genetic and haplotype analyses | 2 patients identified with CAG expansion greater than control; each had an affected sister; minimum prevalence of 0.16/100,000 (95% CI, upper value: 0.31) |
MSA = Multiple system atrophy; PSP = progressive supranuclear palsy; SCA = spinocerebellar ataxia.