Results 51 to 60 of about 4,597 (153)

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose‐6‐Phosphorylation and Cellular Uptake of Aspartylglucosaminidase

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of aspartylglucosaminidase (AGA), a hydrolase involved in the degradation of N‐glycosylated proteins. Currently, no approved therapies are available for AGU. Development of enzyme replacement therapy (ERT) for AGU has been hampered by the complex proteolytic ...
Antje Banning, Lidia Reznikova, Adla Murad, Ritva Tikkanen   +3 more
wiley   +1 more source

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Orphanet Journal of Rare Diseases, 2021
Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1).
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams   +20 more
doaj   +1 more source

Genetic frontotemporal degeneration across the lifespan? A critical appraisal of the neurodevelopmental hypothesis

Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.
Abstract Potential neurodevelopmental effects of genetic frontotemporal degeneration (FTD)‐related variants have been postulated by observational studies over the past 25 years. Recent data from large FTD cohort studies have delineated biological and phenotypic characteristics of presymptomatic stages of disease, with some genetic variants showing ...
Isis So, Timothy J. Y. Birkle, Karen E. Duff, Miguel Restrepo‐Martinez, Simon Ducharme, Elizabeth C. Finger   +5 more
wiley   +1 more source

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Italian Journal of Pediatrics, 2020
Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano   +17 more
doaj   +1 more source

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip

Cell Reports Medicine
Summary: Mutations in the tripeptidyl peptidase 1 (TPP1) gene lead to neuronal ceroid lipofuscinosis type 2 (CLN2), characterized by lysosomal accumulation of lipofuscins predominantly in the brain and retina.
Serena Corti, Kwi Hye Kim, Ting Chen, Adelina Botezatu, Virginia Cora, Ke Ma, Natalia Pashkovskaia, Anamaria Bernal Vergara, Denise Sperlich, Kaushambee Dave, Arianna Tolone, Ryan M. Reddinger, Christopher B. Tully, Mikayla Higgins, Alexander Kleger, Markus Breunig, Paul Lopatta, Svenja Wingerter, Madalena Cipriano, Sylvia Bolz, Marius Ueffing, Nicholas Buss, Peter Loskill, Stefan Liebau, Kevin Achberger   +24 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

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a lysosomal storage disorder, causes early childhood psychomotor regression, vision loss, seizures, and rapid progressive gray matter loss. However, the link between neurodegenerative processes induced by lysosomal pathophysiology and the clinical phenotype remains unclear.
Marvin Petersen, Lena Marie Westermann, Luca Hagenah, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Felix L. Naegele, Nils‐Ole Gloyer, Fabian Flottmann, Jens Fiehler, Götz Thomalla, Bastian Cheng, Angela Schulz   +12 more
wiley   +1 more source

Peripheral retinal finding on fluorescein angiography in neuronal ceroid lipofuscinosis type 2 (CLN2)

Journal of American Association for Pediatric Ophthalmology and Strabismus
Classically, peripheral vascular changes in the retina in patients with neuronal ceroid lipofuscinosis type 2 (CLN2) are described as vascular attenuation seen in the late stages of disease on the Weill Connell Ophthalmic Severity Score (WCOSS) staging system.
David L. Rogers, Emily De Los Reyes, Thomas A. Mendel, Brian Caprul, Sarah Podlasiak, Catherine O. Jordan   +5 more
openaire   +2 more sources

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