Literature DB >> 6354796

Central nervous system dysfunction as early sign of neuronal ceroid lipofuscinosis (Batten's disease).

K Kristensen, H C Lou.   

Abstract

During a survey of neuronal ceroid lipofuscinosis (Batten's disease), two younger siblings of patients were found to have the characteristic vacuolation in 11 to 17 per cent of their lymphocytes. The children were four to five years of age and did not have any overt signs or symptoms of the disease. However, they both had markedly reduced auditory memory-span before decreased vision and funduscopic changes developed. The subsequent course of the disease confirmed the diagnosis. It is concluded that neuronal ceroid lipofuscinosis may affect mental functions much earlier than previously believed.

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Year:  1983        PMID: 6354796     DOI: 10.1111/j.1469-8749.1983.tb13815.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  3 in total

1.  Diminished MTORC1-Dependent JNK Activation Underlies the Neurodevelopmental Defects Associated with Lysosomal Dysfunction.

Authors:  Ching-On Wong; Michela Palmieri; Jiaxing Li; Dmitry Akhmedov; Yufang Chao; Geoffrey T Broadhead; Michael X Zhu; Rebecca Berdeaux; Catherine A Collins; Marco Sardiello; Kartik Venkatachalam
Journal:  Cell Rep       Date:  2015-09-17       Impact factor: 9.423

2.  Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies.

Authors:  Heather R Adams; Jennifer Kwon; Frederick J Marshall; Elisabeth A de Blieck; David A Pearce; Jonathan W Mink
Journal:  J Child Neurol       Date:  2007-05       Impact factor: 1.987

3.  Timing of cognitive decline in CLN3 disease.

Authors:  Willemijn F E Kuper; Claudia van Alfen; Roeliene H Rigterink; Sabine A Fuchs; Maria M van Genderen; Peter M van Hasselt
Journal:  J Inherit Metab Dis       Date:  2018-02-01       Impact factor: 4.982

  3 in total

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