Results 71 to 80 of about 1,648 (197)

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

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

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

Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features [PDF]

Brain, 2018
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging.
Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3, * Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15, 16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21, 22, Eva Andermann 21, 22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2, Stirling Carpenter 23   +33 more
openaire   +8 more sources

Pro-cathepsin D prevents aberrant protein aggregation dependent on endoplasmic reticulum protein CLN6.

Molecular Genetics and Metabolism
We previously expressed a chimeric protein in which the small heat-shock protein αB-crystallin (αBC) is fused at its N-terminus to the C-terminus of the first transmembrane segment of the endoplasmic reticulum (ER) protein mitsugumin 23 and confirmed its
Y. Shiro, Syouichi Katayama, Haruka Tsukamoto, Tetsuo Yamazaki   +3 more
semanticscholar   +1 more source

Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses

Frontiers in Neurology, 2022
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and
Marina Trivisano, Alessandro Ferretti, Costanza Calabrese, Nicola Pietrafusa, Ludovica Piscitello, Giusy Carfi' Pavia, Federico Vigevano, Nicola Specchio   +7 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

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

bioRxiv, 2019
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8.
Lakshya Bajaj, Alberto di Ronza, P. Zheng, A. Eblimit, Rituraj Pal, Jaiprakash Sharma, Dany Roman, John R. Collette, R. Sifers, S. Jung, Rui Chen, R. Schekman, Marco Sardiello   +12 more
semanticscholar   +1 more source

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not
Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang   +4 more
doaj   +1 more source

Neuronal ceroid lipofuscinoses in children

Annals of Indian Academy of Neurology, 2021
Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types.
Mahesh Kamate, Narendranadha Reddy, Mayank Detroja, Virupaxi Hattiholi   +3 more
doaj   +1 more source