Results 61 to 70 of about 2,625 (156)

CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events.

PLoS ONE, 2014
Juvenile Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function.
Mark L Schultz, Luis Tecedor, Colleen S Stein, Mark A Stamnes, Beverly L Davidson   +4 more
doaj   +1 more source

Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non‐verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of ...
Lottie D. Morison, Ineka T. Whiteman, Adam P. Vogel, Lisa Tilbrook, Michael C. Fahey, Ruth Braden, Joanna Bredebusch, Michael S. Hildebrand, Ingrid E. Scheffer, Angela T. Morgan   +9 more
wiley   +1 more source

Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways

Movement Disorders, Volume 40, Issue 1, Page 7-21, January 2025.
Abstract Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular‐genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes.
Nicole Calakos, Michael Zech
wiley   +1 more source

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

Arquivos de Neuro-Psiquiatria, 1974
Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor ...
Luciano de Souza Queiroz, Joaquim N. da Cruz Neto, J. Lopes de Faria   +2 more
doaj   +1 more source

Characteristics and clinical course of myoclonus in Cavalier King Charles Spaniels

Journal of Veterinary Internal Medicine, Volume 39, Issue 1, January/February 2025.
Abstract Background Myoclonus has been described in aging Cavalier King Charles Spaniels (CKCS), but the natural course of the disease and response to treatment have not been described. Objectives Report the clinical features and course of myoclonus in CKCS. Animals Twenty‐seven caregivers provided questionnaire responses at a median of 24 months after
Matthew James, Mark Lowrie, Clare Rusbridge   +2 more
wiley   +1 more source

The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila

Frontiers in Cell and Developmental Biology
CLN3 mutation causes Juvenile neuronal ceroid lipofuscinosis (JNCL, also known as Batten disease), an early onset neurodegenerative disorder. Patients who suffer from Batten disease often die at an early age.
Zihua Yu, Zihua Yu, Jinhua Yan, Zhiming Liu, Haiyan Wang, Guanzheng Luo, Haiyang Chen   +6 more
doaj   +1 more source

Adult‐onset neuronal ceroid lipofuscinosis in a smooth‐haired dachshund

Veterinary Record Case Reports, Volume 12, Issue 4, December 2024.
Abstract A 5‐year‐old, smooth‐haired miniature dachshund exhibited a progressive history of frequent episodes of aggression towards objects, head pressing, circling and intermittent pelvic limb ataxia over a period of 2 weeks. Visual impairment was also noticed several months prior. Neurolocalisation was consistent with forebrain disease.
Diogo Gouveia, Emilie Cloup, Max Foreman
wiley   +1 more source

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis

Animal Genetics, Volume 55, Issue 6, Page 801-809, December 2024.
Abstract Neuronal ceroid lipofuscinosis (NCL) represents a heterogenous group of lysosomal storage diseases resulting in progressive neurodegeneration. We investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months.
Stefan J. Rietmann, Shenja Loderstedt, Kaspar Matiasek, Ingmar Kiefer, Vidhya Jagannathan, Tosso Leeb   +5 more
wiley   +1 more source

Mimickers of hydroxychloroquine retinal toxicity

Clinical &Experimental Ophthalmology, Volume 52, Issue 9, Page 1003-1015, December 2024.
Abstract Hydroxychloroquine (HCQ) retinal toxicity is an important entity that can be challenging to differentiate from its mimickers. Bull's eye maculopathy is the classical presentation of HCQ retinopathy; however, its differential includes several drug‐related retinal toxicities, inherited retinal disorders, and systemic conditions with associated ...
Peter Jones, Gagan Kalra, Mayss Al‐Sheikh, Jay Chhablani   +3 more
wiley   +1 more source

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures

Neurobiology of Disease, 2011
Juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease is an autosomal recessive neurodegenerative disorder of children caused by mutation in CLN3.
Song-Lin Ding, Luis Tecedor, Colleen S. Stein, Beverly L. Davidson   +3 more
doaj   +1 more source