Results 41 to 50 of about 2,625 (156)

Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases.

J Pediatr Neurosci, 2013
The diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) is usually based on age of onset, initial clinical symptoms, clinical progression, and pathologic findings. Our cases manifested atypical clinical symptomatology and/or pathologic findings and therefore, represent variant forms of JNCL.
Setty G, Saleem R, Khan A, Hussain N.
europepmc   +4 more sources

Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.

J Pediatr Neurosci, 2013
We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL).
Khan A, Chieng KS, Baheerathan A, Hussain N, Gosalakkal J.   +4 more
europepmc   +4 more sources

Using Stem Cells to Model Diseases of the Outer Retina

Computational and Structural Biotechnology Journal, 2015
Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE). It is one of the leading causes of irreversible blindness worldwide with limited effective treatment options.
Camille Yvon, Conor M. Ramsden, Amelia Lane, Michael B. Powner, Lyndon da Cruz, Peter J. Coffey, Amanda-Jayne F. Carr   +6 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

IgG entry and deposition are components of the neuroimmune response in Batten disease

Neurobiology of Disease, 2007
Patients and a mouse model of Batten disease, the juvenile form of neuronal ceroid lipofuscinosis (JNCL), raise autoantibodies against GAD65 and other brain-directed antigens. Here we investigate the adaptive component of the neuroimmune response. Cln3−/−
Ming J. Lim, Noreen Alexander, Jared W. Benedict, Subrata Chattopadhyay, Stephen J.A. Shemilt, Christopher J. Guérin, Jonathan D. Cooper, David A. Pearce   +7 more
doaj   +1 more source

Alterations in EGF-Endocytosis, Lysosomal Enzyme Transport and Maturation of Cathepsins in Juvenile Neuronal Ceroid Lipofuscinosis Fibroblasts

International Clinical Neuroscience Journal, 2020
Background: Juvenile neuronal ceroid lipofuscinosis (JNCL), one of the most frequent forms of the NCL storage diseases, is known to be caused by loss-of-function mutations in ceroid-lipofuscinosis neuronal protein 3 (CLN3), but its cell function has not ...
Jaime Cárcel-Trullols
doaj   +1 more source

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Ezgi Erterek, Benan Temizci, Şeyma Tekgül, Bilal Çakır, A. Nazlı Başak, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay   +7 more
wiley   +1 more source

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

Arquivos de Neuro-Psiquiatria, 2011
OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood.
Eugênia Ribeiro Valadares, Mayara Xavier Pizarro, Luiz Roberto Oliveira, Regina Helena Caldas de Amorim, Tarcísio Márcio Magalhães Pinheiro, Ulrike Grieben, Helena Hollanda Santos, Rachel Rabelo Queiroz, Guilherme de Castro Lopes, Ana Lúcia Brunialti Godard   +9 more
doaj   +1 more source

Thalamocortical neuron loss and localized astrocytosis in the Cln3Δex7/8 knock-in mouse model of Batten disease

Neurobiology of Disease, 2005
Juvenile neuronal ceroid lipofuscinosis (JNCL) is the result of mutations in the Cln3 gene. The Cln3 knock-in mouse (Cln3Δex7/8) reproduces the most common Cln3 mutation and we have now characterized the CNS of these mice at 12 months of age.
Charlie C. Pontikis, Susan L. Cotman, Marcy E. MacDonald, Jonathan D. Cooper   +3 more
doaj   +1 more source