Long-term follow-up of type 1 XXXX : survival is related to neuroimaging abnormalities.

@entity1 @entity24626 @entity16 @entity12199 @entity302 @entity717
AIM: To evaluate survival, clinical, and genetic characteristics of all @entity1 with classic or type 1 @entity12199 born between 1972 and 1990 in the Netherlands, who at the time were enrolled in an observational study. METHOD: We re-evaluated 24 @entity1 (11 males, 13 females) for long-term follow-up and survival information. RESULTS: Mean length of follow-up was 14 years (SD 9 y 8 mo). Eleven @entity1 were alive at follow-up. All @entity1 showed severe @entity717 , @entity302 , and complete dependency on care. Life expectancy was related to the severity of the @entity12199 on neuroimaging. Molecular analysis of the @entity24626 gene was not possible at the time of the original study and was now requested by eight parents. This revealed a pathogenic nonsense mutation or deletion in seven @entity1 . INTERPRETATION: Our study provides information about the long-term course of @entity12199 and the relationship between @entity12199 severity and prognosis. It also shows that renewed attention to genetic counselling remains valued by families of @entity1 with a severe @entity16 .
