Results 51 to 60 of about 1,809 (153)

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

Molecular Genetics of Neuronal Ceroid Lipofuscinoses [PDF]

Pediatric Research, 1992
This overview describes recent advances in molecular biology of neuronal ceroid lipofuscinoses (CLN). Despite intensive research during last 20 years, the basic defects of these autosomal recessive-progressive encephalopathies of childhood remain unknown. Consequently, no specific cure is available.
I, Järvelä, J, Vesa, P, Santavuori, E, Hellsten, L, Peltonen   +4 more
openaire   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

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

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +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

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

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

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