Results 61 to 70 of about 1,359 (178)

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 first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not
Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang   +4 more
doaj   +1 more source

Neuronal ceroid lipofuscinoses in children

Annals of Indian Academy of Neurology, 2021
Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types.
Mahesh Kamate, Narendranadha Reddy, Mayank Detroja, Virupaxi Hattiholi   +3 more
doaj   +1 more source

Predictors of etiology and drug resistance in children with new‐onset focal seizures

Epilepsia Open, Volume 11, Issue 1, Page 123-135, February 2026.
Abstract Objective To examine the clinical features of new‐onset focal seizures in children and investigate clinical associations and predictors of underlying etiology and drug resistance. Methods Data were gathered from The Children's Hospital at Westmead admissions for patients aged 1 month to 18 years who presented with new‐onset focal seizures ...
Byoung Chan Lee, Russell C. Dale, Elizabeth H. Barnes, Shekeeb S. Mohammad, Sachin Gupta, Chong Wong, Deepak Gill, Kavitha Kothur   +7 more
wiley   +1 more source

The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction

Neurobiology of Disease, 2011
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are characterized by progressive neurodegeneration resulting in widespread brain atrophy. Each form is assumed to be the consequence of some universal intracellular event; however, time course ...
Graham W. Kay, Nigel P. Jay, David N. Palmer   +2 more
doaj   +1 more source

Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)

Neurobiology of Disease, 2005
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases characterized by gross brain atrophy, blindness, and intracellular accumulation of lysosome-derived storage bodies.
Manfred J. Oswald, David N. Palmer, Graham W. Kay, Stephen J.A. Shemilt, Payam Rezaie, Jonathan D. Cooper   +5 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

Identification of a novel mutation and a rare case of CLN6 and computation protein structure

, 2023
Abstract Neuronal ceroid lipofuscinoses (NCLs) also known as Batten disease jointly account the highest incidences of hereditary neurodegenerative disease in childhood. This disease is mostly presented by vision loss, ataxia, premature mortality in later stages of disease and epileptic seizures.
Fozhan Saboori, Nazanin Ghaderi Nejad
openaire   +1 more source

Reduction of metallothionein and synaptic proteins in CLN6 affected brain.

, 2013
(A) Occipital lobe homogenate from control and CLN6 affected sheep was immunoblotted with an antibody for metallothionein I/II and β–tubulin as loading control.
Katja M. Kanninen (144942), Alexandra Grubman (389646), Brett M. Paterson (144950), Anthony R. White (144961), David N. Palmer (389649), Peter J. Crouch (144959), Paul S. Donnelly (144955), James L. Hickey (389648), Irene Volitakis (31156), Imke Tammen (280856), Clare Duncan (110180), Jiang-Li Tan (389647), Jodi Meyerowitz (144932), Sarah J. Parker (144929)   +13 more
core   +1 more source

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Journal of Inborn Errors of Metabolism and Screening, 2021
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration.
Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher   +9 more
doaj   +1 more source