Results 51 to 60 of about 1,806 (157)

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a lysosomal storage disorder, causes early childhood psychomotor regression, vision loss, seizures, and rapid progressive gray matter loss. However, the link between neurodegenerative processes induced by lysosomal pathophysiology and the clinical phenotype remains unclear.
Marvin Petersen, Lena Marie Westermann, Luca Hagenah, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Felix L. Naegele, Nils‐Ole Gloyer, Fabian Flottmann, Jens Fiehler, Götz Thomalla, Bastian Cheng, Angela Schulz   +12 more
wiley   +1 more source

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early ...
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky   +11 more
doaj   +1 more source

Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses

Neurobiology of Disease, 2023
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders whose molecular mechanisms remain largely unknown. Omics approaches are among the methods that generate new information on modifying factors and molecular signatures. Moreover,
N. Gammaldi, F. Pezzini, E. Michelucci, N. Di Giorgi, A. Simonati, S. Rocchiccioli, F.M. Santorelli, S. Doccini   +7 more
doaj   +1 more source

Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer's disease (AD), yet the genetic and molecular pathways that disrupt protein homeostasis remain poorly understood. METHODS We integrated human genetics, transcriptomics, and functional studies to identify proteostasis network components involved ...
Samantha K. Swift, Guangming Huang, J. Nicholas Cochran, Ricardo D'Oliveira Albanus, Miguel A. Minaya, Patricia A. Castruita, Rui Zhang, Katherine J. Miller, Emma Starr, Grant Galasso, Jacob A. Marsh, Aimee W. Kao, Oscar Harari, Jennifer S. Yokoyama, Celeste M. Karch   +14 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 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

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