A 13-year follow-up of Finnish patients with Salla disease.

ABSTRACT:

Background

Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up.

Methods

Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination.

Results

The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of

SUBMITTER: Paavola LE 

PROVIDER: S-EPMC4499899 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature