Results 51 to 60 of about 3,421 (195)

Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response [PDF]

, 2007
Background The infantile form of neuronal ceroid lipofuscinosis (also known as infantile Batten disease) is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1), and is characterized by severe cortical ...
Xingwen Qiao, Jui-Yun Lu, Sandra L Hofmann   +2 more
core   +1 more source

Late infantile neuronal ceroid lipofuscinosis with epilepsy as the first symptom: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
DOI: 10.3969/j.issn.1672-6731.2018.06 ...
Jing XIAO
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis [PDF]

, 2007
The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases characterized by massive accumulation of autofluorescent storage bodies in neurons and other cells. A late-onset form of NCL occurs in Tibetan terrier dogs.
Johnson, Gary S., Katz, Martin L., Mooney, Brian P., Sanders, Douglas N., 1973-   +3 more
core   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than
Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen   +5 more
doaj   +1 more source

Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer's disease (AD), yet the genetic and molecular pathways that disrupt protein homeostasis remain poorly understood. METHODS We integrated human genetics, transcriptomics, and functional studies to identify proteostasis network components involved ...
Samantha K. Swift, Guangming Huang, J. Nicholas Cochran, Ricardo D'Oliveira Albanus, Miguel A. Minaya, Patricia A. Castruita, Rui Zhang, Katherine J. Miller, Emma Starr, Grant Galasso, Jacob A. Marsh, Aimee W. Kao, Oscar Harari, Jennifer S. Yokoyama, Celeste M. Karch   +14 more
wiley   +1 more source

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

Arquivos de Neuro-Psiquiatria
Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive ...
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira   +8 more
doaj   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) [PDF]

, 2016
OBJECTIVE: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.
ANCL Gene Discovery Consortium, ., Anderson, GW, Bahlo, M, Berkovic, SF, Cadieux-Dion, M, Carpenter, S, Cossette, P, Cotman, SL, Damiano, JA, Hildebrand, MS, Jedlickova, I, Kmoch, S, Mole, SE, Oliver, KL, Pristoupilova, A, Sims, KB, Smith, KR, Staropoli, JF   +17 more
core   +1 more source