A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

被引：12

作者：

Aberg, Laura ^{[1
]}

Lauronen, Leena ^{[2
,3
]}

Hamalainen, Janne ^{[4
]}

Mole, Sara E. ^{[5
]}

Autti, Taina ^{[4
]}

机构：

[1] Univ Helsinki, Helsinki Univ Cent Hosp, Pediat Neurol Dept Pediat & Adolescent Med, Helsinki, Finland

[2] Univ Helsinki, Helsinki Univ Cent Hosp, BioMag Lab HUSLAB, Helsinki, Finland

[3] Univ Helsinki, Helsinki Univ Cent Hosp, Dept Clin Neurophysiol, Hosp Children & Adolescents, Helsinki, Finland

[4] Univ Helsinki, Helsinki Univ Cent Hosp, Helsinki Med Imaging Ctr, Helsinki, Finland

[5] UCL, MRC Lab Mol Cell Biol, Mol Med Unit, Inst Child Hlth, London, England

来源：

PEDIATRIC NEUROLOGY | 2009年 / 40卷 / 02期

关键词：

UNDERLYING BATTEN-DISEASE; GENE; MRI;

D O I：

10.1016/j.pediatrneurol.2008.10.012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Reported here is the 30-year follow-up of a patient, diagnosed with juvenile neuronal ceroid lipofuscinosis, who was compound heterozygous for the common 1-kb deletion and the missense mutation p.Glu295Lys in the CLN3 gene. Visual failure was noticed at 6 years of age, but thereafter disease progression was atypical. Polyneuropathy and cerebellar signs were observed after age 20, and epilepsy and slight mental decline after age 35. From then on, there was rapid deterioration, and the patient died at age 39. This case highlights the importance of exact genotyping for disease course prediction and management. (C) 2009 by Elsevier Inc. All rights reserved.

引用

页码：134 / 137

页数：4

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