Results 51 to 60 of about 69,398 (132)
, 2022 Abstract Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible, improving quality of life and survival.
Norberto Guelbert +34 more
openaire +1 more source
Epilepsia, Volume 66, Issue 4, Page 1014-1023, April 2025.Abstract Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug‐resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome.
Ingrid E. Scheffer +5 more
wiley +1 more source
Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy
CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Yuheng Zhang +4 more
wiley +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 +9 more
wiley +1 more source
, 2023 Uvod: Bolesti usled poremećaja razgradnje i deponovanja makromolekula u lizozomima (BRDL) čine heterogenu grupu rijetkih naslednih oboljenja sa oko 50 članova.
Gutić, Medo
core +1 more source
Diagnostic findings and yield of investigations for children with developmental regression
American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.Abstract Childhood conditions that feature developmental regression are poorly understood. Phenotype–genotype characterization and diagnostic yield data are needed to inform clinical decision‐making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations.
Kirsten Furley +3 more
wiley +1 more source
Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? [PDF]
, 2023 Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric disorder associated with rapid neurodegeneration, and premature death in adolescence.
Hamborg, Christiane +9 more
core
Clinical and Translational Science, Volume 17, Issue 8, August 2024.Abstract Real‐world evidence (RWE) has an increasing role in preapproval settings to support the approval of new medicines and indications. The main objectives of this study were to identify and characterize regulatory use cases that utilized RWE and other related observational approaches through targeted review of publications and regulatory review ...
Golnoosh Alipour‐Haris +4 more
wiley +1 more source
The First Neural Ceroid Lipofuscinosis Type 2 Case in Ecuador: A Case Report
, 2023 Neuronal ceroid lipofuscinosis type 2 is a neurodegenerative disease of autosomal recessive inheritance that produces an accumulation of ceroid lipofuscin in the brain and retina.
Alejandra, Medina Parra Karen +3 more
core +2 more sources
Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy. [PDF]
NeurologyOBJECTIVES: Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression.
Spaull R +8 more
europepmc +3 more sources