title: Protracted juvenile neuronal ceroid lipofuscinosis--an autopsy report and immunohistochemical analysis.
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.
authors.affiliation: Department of Pediatrics, National Rehabilitation Center of Disabled Children, 1-1-10, Komone, Tokyo 173-0037, Japan. y-annzai@ryouiku.or.jp
authors.forename: Yuki
authors.initials: Y
authors.lastname: Anzai
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
authors.forename: Noboru
authors.initials: N
authors.lastname: Fueki
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kurata
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Ohya
mesh_terms: D000080242:8-Hydroxy-2'-Deoxyguanosine; D000447:Aldehydes / Q000378:metabolism; D001344:Autopsy / Q000379:methods; D001921:Brain / Q000473:pathology; D003849:Deoxyguanosine / Q000031:analogs & derivatives / Q000378:metabolism; D005192:Family Health; D017127:Glycation End Products, Advanced / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism* / Q000473:pathology*; D009474:Neurons / Q000378:metabolism
chemical_list: D000447:Aldehydes; D017127:Glycation End Products, Advanced; D000080242:8-Hydroxy-2'-Deoxyguanosine; D003849:Deoxyguanosine; C027576:4-hydroxy-2-nonenal