Abstract：
:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy in a case of PJNCL in a 55-year-old male and immunohistochemical examination of the involvement of oxidative stress and glutamate excitotoxicity in neurodegeneration. The patient was born to consanguineous parents (I assume this means that the parents were related. If not, then the sentence will need to be changed again.) and had brothers with similar neurological disease. He showed mental retardation and visual impairment in the first decade which gradually developed along with motor dysfunction for over 40 years. At autopsy, the cerebral pyramidal neurons revealed deposition of lipopigments, which demonstrated 'finger print' and curvilinear profiles on electron microscopy. He also exhibited cerebellar cortical atrophy, fibrillary gliosis in the white matter, and rarefication in the globus pallidus. Immunohistochemically, the number of neurons immunoreactive for advanced glycation end product was elevated in the cerebellar cortex and midbrain. Immunoreactivity for excitatory amino acid transporter 1 was reduced in the cerebellar dentate and inferior olivary nuclei. These findings suggest that oxidative damage to proteins and disturbed glutamate transport can be involved in PJNCL.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Anzai Y,Hayashi M,Fueki N,Kurata K,Ohya Tdoi
10.1016/j.braindev.2005.12.004keywords:
subject
Has Abstractpub_date
2006-08-01 00:00:00pages
462-5issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(05)00264-0journal_volume
28pub_type
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pub_type： 临床试验,杂志文章
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更新日期：2008-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2007-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2004.05.003
更新日期：2005-04-01 00:00:00
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pub_type： 杂志文章
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.12.004
更新日期：2005-10-01 00:00:00
