Results 31 to 40 of about 4,597 (153)

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source

Deciphering Freezing of Gait: What Neuropathology Reveals About an Episodic Phenomenon. [PDF]

Eur J Neurosci
Freezing of gait (FoG) occurs across Parkinson's disease, multiple neurodegenerative conditions and non‐neurodegenerative disorders. This review synthesizes the structural, neurochemical and proteinopathic substrates underlying FoG, showing how cumulative damage to distributed locomotor circuits—compounded by overlapping pathologies—progressively ...
Kovacs GG.
europepmc   +2 more sources

Physiotherapy for Children with CLN2 Disease

Journal of Inborn Errors of Metabolism and Screening, 2019
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, genetic, paediatric-onset, neurodegenerative lysosomal storage disorder characterised by seizures, ataxia, rapid loss of motor function and language ability, dementia, visual loss and early ...
Ina von Löbbecke
doaj   +1 more source

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

Arquivos de Neuro-Psiquiatria, 2023
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years.
Leticia Pereira de Brito Sampaio, Maria Luiza Giraldes de Manreza, André Pessoa, Juliana Gurgel-Giannetti, Ana Carolina Coan, Hélio van der Linden Júnior, Emília Katiane Embiruçu, Adélia Maria de Miranda Henriques-Souza, Fernando Kok   +8 more
doaj   +1 more source

The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. [PDF]

PLoS ONE, 2013
The objective of this study was to screen a dog population from Belgium, the Netherlands and Germany for the presence of mutant alleles associated with hip dysplasia (HD), degenerative myelopathy (DM), exercise-induced collapse (EIC), neuronal ceroid ...
Bart J G Broeckx, Frank Coopman, Geert E C Verhoeven, Wim Van Haeringen, Leanne van de Goor, Tim Bosmans, Ingrid Gielen, Jimmy H Saunders, Sandra S A Soetaert, Henri Van Bree, Christophe Van Neste, Filip Van Nieuwerburgh, Bernadette Van Ryssen, Elien Verelst, Katleen Van Steendam, Dieter Deforce   +15 more
doaj   +1 more source

A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis

Journal of Veterinary Internal Medicine, 2020
A 2‐year‐old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination.
Julien Guevar, Petra Hug, Felix Giebels, Alexane Durand, Vidhya Jagannathan, Tosso Leeb   +5 more
doaj   +1 more source

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model

Scientific Reports, 2023
Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease (Batten disease) is a rare pediatric disease, with symptom development leading to clinical diagnosis.
Kevin Knoernschild, Hans J. Johnson, Kimberly E. Schroeder, Vicki J. Swier, Katherine A. White, Takashi S. Sato, Christopher S. Rogers, Jill M. Weimer, Jessica C. Sieren   +8 more
doaj   +1 more source

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

Arquivos de Neuro-Psiquiatria
Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive ...
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira   +8 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
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.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +2 more sources

Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease

Clinical and Translational Science, 2021
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an ultra‐rare pediatric neurodegenerative disorder characterized by deficiency of the lysosomal enzyme tripeptidyl peptidase‐1 (TPP1).
Kevin Hammon, Greg deHart, Brian R. Vuillemenot, Derek Kennedy, Don Musson, Charles A. O’Neill, Martin L. Katz, Joshua W. Henshaw   +7 more
doaj   +1 more source