Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis

被引：39

作者：

Cannelli, N. ^{[1
]}

Narclocci, N. ^{[1
]}

Cassandrini, D. ^{[1
]}

Morbin, M. ^{[1
]}

Aiello, C. ^{[1
]}

Bugiani, M. ^{[1
]}

Criscuolo, L. ^{[1
]}

Zara, F. ^{[1
]}

Striano, P. ^{[1
]}

Granata, T. ^{[1
]}

Bertini, E. ^{[1
]}

Simonati, A. ^{[1
]}

Santorelli, F. M. ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italy

来源：

NEUROPEDIATRICS | 2007年 / 38卷 / 01期

关键词：

neuronal ceroid lipofuscinoses; CLN5; gene; storage disease; Scandanavia; mutation;

D O I：

10.1055/s-2007-981449

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Neuronal ceroid lipofuscinoses (NCLs) are relatively common storage diseases of childhood and early adolescence. Ultrastructural shape of storage cytosomes, type of disease gene, and age of onset serve to classify the different NCLs, some of which appear to cluster in Scandinavian countries. The CLN5 form usually presents as a classical epileptiform encephalopathy of late infancy but a more aggressive cognitive impairment has been described in a single family. We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset.

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收藏

页码：46 / 49

页数：4

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