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.

journal_name

Neuroepidemiology

journal_title

Neuroepidemiology

authors

Braschinsky M,Luus SM,Gross-Paju K,Haldre S

doi

10.1159/000177033

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

89-93

issue

2

eissn

0251-5350

issn

1423-0208

pii

000177033

journal_volume

32

pub_type

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