Search results for "PPT1"

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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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Current state of clinical and morphological features in human NCL.

2004

The neuronal ceroid lipofuscinoses (NCL) are large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of (NCL) was based on age at onset clinicopathological (C‐P) findings described 4 forms, classified as infantile (INCL) (2), late‐infantile (LINCL) (5), juvenile (JNCL) (6), and adult (ANCL) most patients with NCL have progressive ocular and cerebral dysfunvtion, including cognitive/motor dysfunction and uncontrolled seizures. After reviewing 520 patients with NCL, we found that about 104 (20%) did not fit this classification of NCL With further research, 4 additional forms have been recognized: F…

AdultPathologymedicine.medical_specialtymedicine.disease_causeArticlePathology and Forensic MedicineEpilepsyNeuronal Ceroid-LipofuscinosesGenotypemedicineHumansPalmitoyl protein thioesteraseAge of OnsetChildInclusion BodiesMutationbiologyTripeptidyl-Peptidase 1General NeurosciencePPT1Infantmedicine.diseasePhenotypeCLN8Child PreschoolMutationbiology.proteinNeurology (clinical)Age of onsetBrain pathology (Zurich, Switzerland)
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