Results 51 to 60 of about 9,571 (221)

Lipofuscinose Ceroide Infantil Precoce--o papel da Ressonância Magnética Nuclear no diagnóstico.

Acta Médica Portuguesa, 2001
The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy.
A M Reis, Z Magalhães, C Barbosa, D Alves, J R Pereira   +4 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

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy [PDF]

, 2017
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy.
Ali, M, Arno, G, Bagheri, S, Bakall, B, Bommireddy, T, Carss, K, El-Asrag, ME, for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, Holder, GE, Inglehearn, CF, Khan, KN, Ku, CA, McKibbin, M, Michaelides, M, Moore, AT, Pennesi, ME, Poulter, JA, Raymond, FL, Scholl, HP, Toomes, C, Webster, AR   +20 more
core   +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

Spino-Cerebellar Degeneration and Ceroid Lipofuscinosis

Pediatric Neurology Briefs, 1988
Neuronal ceroid lipofuscinosis (NCL) presenting in two different forms within a family is reported from the New York State Office of Mental Retardation and Developmental Disabilities, Institute for Basic Research, 10560 Forest Hill Rd, Staten Island, NY ...
J Gordon Millichap
doaj   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core   +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

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

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

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core