Neuronal ceroid lipofuscinosis type-11 in an adolescent
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.03.004
Abstract: Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; ceroid; ceroid lipofuscinosis ... See more keywords
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.04.018
Abstract: BACKGROUND Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; disease; ceroid lipofuscinosis ... See more keywords
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease
Sign Up to like & getrecommendations! Published in 2017 at "Epilepsia"
DOI: 10.1111/epi.13820
Abstract: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and… read more here.
Keywords: disease; lipofuscinosis type; neuronal ceroid; ceroid lipofuscinosis ... See more keywords
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17269
Abstract: This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure®,… read more here.
Keywords: ceroid lipofuscinosis; lipofuscinosis type; diagnosis; disease ... See more keywords
Neuronal ceroid lipofuscinosis type 2: an Australian case series
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.14890
Abstract: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2–4 years with seizures and loss of motor and language skills, followed by blindness and death in late… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; type australian; ceroid lipofuscinosis ... See more keywords
Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738221128773
Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists and neuroradiologists with… read more here.
Keywords: ceroid lipofuscinosis; lipofuscinosis type; diagnosis; eeg magnetic ... See more keywords