Hereditær spastisk paraparese og ataksi ved Ullevål universitetssykehus

BACKGROUND: Hereditary spastic paraplegia and ataxia are rare neurodegenerative disorders with a prevalence of 2-10/100 000 according to literature. They are characterized by a great clinical and genetic heterogeneity, and the geographic occurrence varies. OBJECTIVES: - To identify patients with hereditary spastic paraplegia (HSP) or hereditary cerebellar ataxia (HA) among patients referred to Ullevål hospital after the introduction of the ICD-10 classification system in 1998. - To find out whether the use of hospital records is a suitable method to identify these patients and indicate the prevalence of these disorders in Ullevål’s area. DESIGN: Retrospective study. MATERIAL AND METHODS: We went through 719 patients’ records with the selected relevant codes from ICD-10. We used well defined clinical and anamnestic criterias when going through the records. When the information in the records was not sufficient, the patient was reassessed. The data were filed in Microsoft Excel and analysed. RESULTS: We found 20 confirmed HSP/HA in our material. This gives a prevalence for HSP of 1.3/100 000 and 1.9/100 000 for HA. 21 remained probable, but not confirmed. If we include these, the prevalence are 1.7/100 000 (HSP) and 4.7/100 000 (HA). Six patients with HSP or HA had not been given a correct diagnosis, while 31 were wrongly given a HSP/HA-diagnosist. CONCLUSIONS: The prevalence we found was lower than expected, and possible explanations for this are discussed. At present, our method to find patients with HSP or HA is cumbersome and cannot give a certain epidemiological prevalence within a given area