Results 71 to 80 of about 2,376 (188)

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease. [PDF]

PLoS ONE, 2013
Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders.
Jeremy P Morgan, Helen Magee, Andrew Wong, Tarah Nelson, Bettina Koch, Jonathan D Cooper, Jill M Weimer   +6 more
doaj   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Prosaposin Is Cleaved Into Saposins by Multiple Cathepsins in a Progranulin‐Regulated Fashion

Journal of Neurochemistry, Volume 170, Issue 1, January 2026.
Prosaposin (PSAP) is a lysosomal protein cleaved into four bioactive saposins (SapA‐D) that regulate sphingolipid breakdown. Here, we identify nine cathepsins, including seven newly implicated enzymes, that process PSAP in a pH‐dependent manner to generate distinct cleavage products.
Molly Hodul, Courtney Lane‐Donovan, Emily S. Cheang, Vienna Gao, Paul J. Sampognaro, Edwina A. Mambou, Zoe Yang, Aimee W. Kao   +7 more
wiley   +1 more source

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

BMC Neurology, 2018
Background Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively.
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth   +12 more
doaj   +1 more source

Neurocognitive, behavioral, and treatment burden as key predictors of parental stress in pediatric epilepsy

Epilepsia, Volume 66, Issue 12, Page 4960-4971, December 2025.
Parental stress is linked to child cognitive impairment, internalizing symptoms, complex treatments, and lower caregiver education. No gender differences were found, though most caregivers were mothers. Findings suggest the need for support beyond seizure control.
Cinzia Correale, Mattia Mercier, Simona Cappelletti, Nicola Pietrafusa, Chiara Falamesca, Elisabetta Collalti, Giusy Carfi’ Pavia, Costanza Calabrese, Marina Trivisano, Luca De Palma, Francesca Cirulli, Nicola Specchio   +11 more
wiley   +1 more source

Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity [PDF]

, 2020
The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there is accumulating evidence that they have co-morbidities outside the brain.
Coode, Emily E., Wibbeler, Eva, Rietdorf, Katja, Bootman, Martin D., Ostergaard, John R., Schulz, Angela   +5 more
core   +1 more source

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

Epilepsia, Volume 66, Issue 11, Page 4107-4121, November 2025.
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu, Yi Ge, Ruyi Wang, Yang Zheng, Jiping Zhou, Zhongjin Wang, Chunhong Shen, Shan Wang, Lingli Hu, Bo Wang, Zhidong Cen, Wei Luo, Meiping Ding, Shuang Wang, Yao Ding   +14 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development

Journal of Neurochemistry, Volume 169, Issue 10, October 2025.
Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa, Fiona Ballorin, Fiona Francis   +2 more
wiley   +1 more source

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

Neurobiology of Disease, 2005
The neuronal ceroid lipofuscinoses are a newly-recognized group of lysosomal storage disorders in which neurodegeneration predominates. The pathophysiological basis for this is unknown.
Tuhin Virmani, Praveena Gupta, Xinran Liu, Ege T. Kavalali, Sandra L. Hofmann   +4 more
doaj   +1 more source