对芬兰患有萨勒病患者的13年随访。

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

作者信息

Paavola Liisa E, Remes Anne M, Harila Marika J, Varho Tarja T, Korhonen Tapio T, Majamaa Kari

机构信息

Department of Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland ; Department of Clinical Medicine, Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland ; Department of Clinical Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland ; Neural Ltd, Center of Neuropsychology, Isokatu 16 B 18, 90100 Oulu, Finland.

Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland ; Department of Neurology, Kuopio University Hospital, P.O. Box 1777, 70211 Kuopio, Finland.

出版信息

J Neurodev Disord. 2015;7(1):20. doi: 10.1186/s11689-015-9116-7. Epub 2015 Jul 13.

DOI:10.1186/s11689-015-9116-7

PMID:26171070

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4499899/

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 age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients.

CONCLUSIONS

Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development.

摘要

背景

萨勒病（SD）是一种罕见的溶酶体贮积症，可导致严重智力残疾。SD属于芬兰疾病谱系，由SLC17A5基因突变引起。本研究的目的是在长期随访中调查SD患者神经认知特征的病程。

方法

对24名年龄在16 - 65岁的SD患者进行了神经心理学和神经学检查，此次检查是在一次类似检查13年后进行的。

结果

生存分析显示，30岁以后的SD患者死亡率过高。疾病呈进行性发展，但对SD患者的随访发现，运动技能在20岁前有所改善，而大多数患者的智力在40岁前有所提高。随访期间言语理解能力没有下降，但由于运动障碍和构音障碍，表达性言语能力恶化。运动缺陷明显。共济失调在儿童期较为突出，但在青少年期被手足徐动症所取代。随着年龄增长，痉挛变得更加明显，尤其是在重度残疾的SD患者中。