Results 91 to 100 of about 9,571 (221)

Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis

Biology Open, 2013
Summary Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes.
Katja M. Kanninen, Alexandra Grubman, Aphrodite Caragounis, Clare Duncan, Sarah J. Parker, Grace E. Lidgerwood, Irene Volitakis, George Ganio, Peter J. Crouch, Anthony R. White   +9 more
doaj   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 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

Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy

Scientific Reports, 2017
The Finnish variant of late infantile neuronal ceroid lipofuscinosis (CLN5 disease) belongs to a family of neuronal ceroid lipofuscinosis (NCLs) diseases. Vision loss is among the first clinical signs in childhood forms of NCLs.
Henri Leinonen, Velta Keksa-Goldsteine, Symantas Ragauskas, Philip Kohlmann, Yajuvinder Singh, Ekaterina Savchenko, Jooseppi Puranen, Tarja Malm, Giedrius Kalesnykas, Jari Koistinaho, Heikki Tanila, Katja M. Kanninen   +11 more
doaj   +1 more source

Delivering Progranulin to Astrocytic Lysosomes Promotes Growth of Co‐Cultured Neurons

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
Loss‐of‐function progranulin (GRN) mutations cause frontotemporal dementia. Most of these mutations cause haploinsufficiency of progranulin, a secreted pro‐protein that has neurotrophic and anti‐inflammatory effects. Progranulin is constitutively secreted before trafficking to lysosomes and it is unclear if its effects are mediated by extracellular ...
Azariah K. Kaplelach, Justin A. Hall, Wren O. Nader, Amelia G. Davidson, Margaret D. Ireland, Lara Ianov, Andrew E. Arrant   +6 more
wiley   +1 more source

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD [PDF]

, 2016
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated
Ceuterick-De Groote, C., Cras, P., Crols, R., D'aes, T., Dillen, L., Engelborghs, S., Marien, P., Martin, J-J., Perrone, F., Sieben, A., Van Broeckhoven, C., van der Zee, J., Van Mossevelde, S., Verhoeven, J., Versijpt, J.   +14 more
core   +2 more sources

Magnetic Resonance Imaging Features of Spontaneous Subdural Hematoma Secondary to Necrotizing Encephalitis in a Dog

Veterinary Radiology &Ultrasound, Volume 66, Issue 6, November 2025.
ABSTRACT A 4‐year‐old castrated male Pomeranian dog with a 2‐year history of necrotizing encephalitis (NE) presented for acute neurological deterioration without trauma. Magnetic resonance imaging (MRI) revealed a broad crescent‐shaped lesion with mixed signal intensities on T1‐ and T2‐weighted images, hypointense areas on T2* images, contrast ...
Eunjee Kim, Gyuhyun Kim, Kyoungwon Seo, Junghee Yoon, Jihye Choi   +4 more
wiley   +1 more source

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Neuronal ceroid lipofuscinosis therapeutics

, 2021
Several therapies for neuronal ceroid lipofuscinosis (NCL) are currently being explored, although not all of them are effective against all subtypes (notably, CLN4, CLN9, CLN12, CLN13, and CLN14 diseases have no treatment studies). The majority of these medicines in development are potentially disease-modifying in the sense that they may slow or even ...
openaire   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source