title: The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia.
abstract: BACKGROUND
  Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder, with a variable reported prevalence ranging from 0.5 to 12 per 100,000. The aim of this retrospective study was to evaluate the prevalence of HSP and estimate the percentage of SPG4 mutations in the Estonian population.
  
  
  METHODS
  A simple model with multiple data sources was selected to enable as many patients as possible to be detected. All relevant case histories from Estonian regional neurological centers for the last 20 years were reviewed; all neurologists and general practitioners were contacted.
  
  
  RESULTS
  A total of 737 case records were captured for secondary evaluation. Among these cases, 88 potential HSP-affected subjects were identified. During this study 59 patients with HSP were identified, giving a crude prevalence rate of 4.4 per 100,000. Eleven persons (21.6% of all studied Estonian HSP patients) with HSP were found to have mutations in the spastin gene (SPG4).
  
  
  CONCLUSIONS
  Our epidemiological data are comparable with the results from epidemiological studies performed elsewhere, indicating that the clinical diagnostic management of HSP patients in Estonia is adequate and the chosen methodological approach for data collection was reliable.
authors.affiliation: Department of Neurology, Tartu University Clinics, Tartu, Estonia. mark.braschinsky@kliinikum.ee
authors.forename: Mark
authors.initials: M
authors.lastname: Braschinsky
authors.forename: Siiri-Merike
authors.initials: SM
authors.lastname: Luus
authors.forename: Katrin
authors.initials: K
authors.lastname: Gross-Paju
authors.forename: Sulev
authors.initials: S
authors.lastname: Haldre
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004957:Estonia / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D012189:Retrospective Studies; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D000074181:Spastin; D055815:Young Adult
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human