Search results for "Palmitoyl protein thioesterase"

showing 2 items of 2 documents

Dementia in the Neuronal Ceroidlipofuscinoses

2001

Dementia is defined as a decline in cognitive abilities such as impairment of memory, reasoning, behaviour, attention, motivation and effectiveness. The term usually implies that normal mature mental capability was achieved before, and it is therefore mostly ascribed to adult patients.

medicine.medical_specialtyBatten diseasebiologyAdult patientsbusiness.industryCognitionmedicine.diseasebiology.proteinmedicineDementiaPalmitoyl protein thioesterasePsychiatryJuvenile neuronal ceroid lipofuscinosisbusinessNeuroscience
researchProduct

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)
researchProduct