Search results for "DNAJC5"

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Human pathology in NCL

2013

AbstractIn childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal diseases and the most frequent neurodegenerative diseases but, in adulthood, they represent a small fraction among the neurodegenerative diseases. Their morphology is marked by: (i) loss of neurons, foremost in the cerebral and cerebellar cortices resulting in cerebral and cerebellar atrophy; (ii) an almost ubiquitous accumulation of lipopigments in nerve cells, but also in extracerebral tissues. Loss of cortical neurons is selective, indiscriminate depletion in early childhood forms occurring only at an advanced stage, whereas loss of neurons in subcortical grey-matter regions has not been quantit…

AdultElectron microscopy; Brain; Extracerebral tissues; Granular osmiophilic deposits; Curvilinear; FingerprintPathologymedicine.medical_specialtyBatten diseaseFingerprintContext (language use)Extracerebral tissuesProgressive myoclonus epilepsyBiologyNeuronal Ceroid-LipofuscinosesCurvilinearElectron microscopymedicineHumansMolecular BiologyTripeptidyl-Peptidase 1BrainPPT1Anatomymedicine.diseaseCLN3DNAJC5Molecular MedicineGranular osmiophilic depositsNeuronal ceroid lipofuscinosisCerebellar atrophyBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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