Results 51 to 60 of about 425 (135)

Outcomes of progranulin gene therapy in the retina are dependent on time and route of delivery

Molecular Therapy: Methods & Clinical Development, 2021
Neuronal ceroid lipofuscinosis (NCL) is a family of neurodegenerative diseases caused by mutations to genes related to lysosomal function. One variant, CNL11, is caused by mutations to the gene encoding the protein progranulin, which regulates neuronal ...
Emilia A. Zin, Daisy Han, Jennifer Tran, Nikolas Morisson-Welch, Meike Visel, Mervi Kuronen, John G. Flannery   +6 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

Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations

American Journal of Ophthalmology Case Reports, 2022
Purpose: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was ...
Michael C. Brodsky, Arlene Drack
doaj   +1 more source

PIK3CA Mutations Downregulate PPT1 to Promote Adipogenesis by Suppressing P300 Depalmitoylation and Phase Separation

Advanced Science, Volume 13, Issue 19, 2 April 2026.
This study demonstrates that somatic PIK3CA mutations suppress PPT1 expression via activation of the PI3K–AKT–c‐JUN axis. This reduction in PPT1 weakens its interaction with P300, thereby increasing palmitoylation at C1176 of P300 and protecting P300 from lysosomal degradation.
Hongrui Chen, Zening Huang, Rui Chang, Wei Gao, Yajing Qiu, Bin Sun, Chen Hua, Xiaoxi Lin   +7 more
wiley   +1 more source

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Ezgi Erterek, Benan Temizci, Şeyma Tekgül, Bilal Çakır, A. Nazlı Başak, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay   +7 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

A clinical case of neuronal ceroid lipofuscinosis type 2

Бюллетень сибирской медицины, 2020
Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders.
L. S. Kraeva, E. S. Koroleva, V. M. Alifirova, A. V. Kuzmina   +3 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
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.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Cardiac involvement in neuronal ceroid lipofuscinosis

Kardiologia Polska, 2013
We present a case of a 58-year-old female with neuropsychiatric symptoms, followed by recurrent episodes of atrial flagellation and symptoms of heart failure. Based on intraoperative myocardial biopsy, neuronal ceroid lipofuscinosis was diagnosed.
Małgorzata, Szwoch, Dagmara, Wojtowicz, Karolina, Dorniak, Ewa, Walczak, Grzegorz, Raczak, Anna, Fidziańska   +5 more
openaire   +2 more sources

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 276-286, February 2026.
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,
Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, CLNet Consortium, C Aiello, R Battini, R Biancheri, M Bonsignore, R Carrozzo, B Dalla Bernardina, S Della Vecchia, S Doccini, A Donati, M Filocamo, B Garavaglia, T Granata, S Grosso, AM Laverda, V Leuzzi, C Marini, M Mastrangelo, T Messena, M Salandin, S Sartori, N Specchio, P Striano, F Taioli, A Tessa, E Veneselli, Filippo M. Santorelli   +29 more
wiley   +1 more source