Results 51 to 60 of about 6,644 (221)

Deciphering Freezing of Gait: What Neuropathology Reveals About an Episodic Phenomenon

European Journal of Neuroscience, Volume 63, Issue 12, June 2026.
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 ...
Gabor G. Kovacs
wiley   +1 more source

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

, 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.
Giebels, Felix, Jagannathan, Vidya, Guevar, Julien, Durand, Alexane, Julien Guevar, Petra Hug, Vidhya Jagannathan, Alexane Durand, Leeb, Tosso, Felix Giebels, Hug, Petra, Tosso Leeb   +11 more
core   +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

Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model

The Journal of Clinical Investigation, 2023
Although a disease-modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding of cellular pathophysiology has hampered the development of more effective and persistent therapies.
Keigo Takahashi, Elizabeth M. Eultgen, Sophie H. Wang, Nicholas R. Rensing, Hemanth R. Nelvagal, Joshua T. Dearborn, Olivier Danos, Nicholas Buss, Mark S. Sands, Michael Wong, Jonathan D. Cooper   +10 more
doaj   +1 more source

Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

Journal of Inborn Errors of Metabolism and Screening, 2020
Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric ...
Norberto Guelbert, Nora Atanacio, Inés Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Naranjo, André Pessoa, Norma Spécola, Lina Tavera, Mónica Troncoso, Diane Vergara   +10 more
doaj   +1 more source

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

Haematopoietic development and immunological function in the absence of cathepsin D [PDF]

, 2007
Background: Cathepsin D is a well-characterized aspartic protease expressed ubiquitously in lysosomes. Cathepsin D deficiency is associated with a spectrum of pathologies leading ultimately to death.
Calogero Tulone, Chain Benjamin M, Grosvenor Nicholas, Saftig, P, Marco Novelli, Uchiyama Yasuo, Novelli Marco, Saftig Paul, Chain, BM, Benjamin M Chain, Paul Saftig, Tulone, C, Nicholas Grosvenor, Yasuo Uchiyama, Uchiyama, Y, Tulone Calogero, Novelli, M, Grosvenor, N   +17 more
core   +1 more source

Aberrant upregulation of glycolysis mediates CLN7 neuronal ceroid lipofuscinosis [PDF]

, 2022
Resumen del trabajo presentado en el 43rd Annual Meeting of the Spanish Society of Biochemistry & Molecular Biology, celebrado en Barcelona, del 19 al 22 de julio de 2021CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage ...
Fernández, Emilio, Bolaños, Juan P., Alonso-Batán, Paula, Vicente-Gutiérrez, Carlos, Burmistrova, Olga, Mole, Sara E, García-Macia, Marina, Jimenez-Blasco, Daniel, Quintana-Cabrera, Ruben, Medina, Diego L., McKay, Tristan R., Buondelmonte, Constantina, Bonora, Nicoló, Storch, Stephan, Almeida, Angeles, Fedichev, Peter O., López-Fabuel, Irene, Morant Ferrando, Brenda   +17 more
core   +1 more source

CSPα in neurodegenerative diseases

Frontiers in Aging Neuroscience, 2022
Adult-onset neuronal ceroid lipofuscinosis (ANCL) is a rare neurodegenerative disease characterized by epilepsy, cognitive degeneration, and motor disorders caused by mutations in the DNAJC5 gene.
Liqin Huang, Zhaohui Zhang
doaj   +1 more source