Results 1 to 10 of about 4,913 (183)

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom [PDF]

Orphanet Journal of Rare Diseases
Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood.
Sara E. Mole, Paul Gissen, Shannon Nordstrom, Suzanne Wait, Louise Allen, Mathilda Antonini, Liz Brownnutt, Richard Brown, Barbara Cole, Frances Gibbon, Robert H. Henderson, Sarah Kenrick, Zlatko Sisic, Bob Thompson, Joanna Nightingale   +14 more
doaj   +20 more sources

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

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   +2 more sources

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]

Dev Med Child Neurol
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A, Pezzini F, Nardocci N, CLNet Consortium, Santorelli FM.   +4 more
europepmc   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

Clin Case Rep
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +2 more sources

Patient and Family Perspective on Transition from Ventricular Access Device to Chest-Sited Port for Intracerebroventricular Infusion in CLN2 Disease [PDF]

Children
Background: Cerliponase alfa is currently the only approved disease-modifying therapy for neuronal ceroid lipofuscinosis type 2 (CLN2) disease and requires lifelong intracerebroventricular (ICV) infusion, traditionally via a scalp-sited ventricular ...
Mahie Gopalka, Jina Patel, Megan Votoupal, Sandi Lam   +3 more
doaj   +2 more sources

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +2 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +2 more sources

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy [PDF]

Frontiers in Genetics
A class of progressive, autosomal recessive neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs) are brought on by lysosomal protein or enzyme dysfunction.
Anna Bryzik, Dawid Larysz, Patrycja Larysz, Julia Izabela Karpierz, Justyna Paprocka   +4 more
doaj   +2 more sources

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients [PDF]

Scientific Reports
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rapidly progressive neurodegenerative disorder leading to premature mortality. Ambulatory CLN2 patients typically receive standard of care treatment through biweekly intracerebroventricular (ICV) enzyme ...
Rahul Soangra, Marybeth Grant-Beuttler, Harriet Chang, Raymond Y. Wang   +3 more
doaj   +2 more sources

Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa [PDF]

Frontiers in Neurology
IntroductionThis study assessed the real-world effectiveness and safety of the enzyme replacement therapy (ERT), cerliponase alfa, to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease.MethodsData from the DEM-CHILD database were analyzed ...
Angela Schulz, Angela Schulz, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann, Luca Hagenah, Susanne Lezius, Ashok Jha, Abigail Hunt, Peter Slasor, Pascal Reisewitz, Miriam Nickel   +11 more
doaj   +2 more sources