Results 81 to 90 of about 6,644 (221)

Neuronal Ceroid-Lipofuscinosis in Older Dachshunds [PDF]

Veterinary Pathology, 1980
A lysosomal storage disease with accumulation of periodic acid-Schiff- and Sudan black-positive autofluorescent granules in neurons occurred in one 51/2- and one 7-year-old dachshund. Ultrastructurally, the storage material consisted of membranous material arranged in stacks and fingerprint patterns.
Vandevelde, M., Fatzer, R.
openaire   +3 more sources

Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials

Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.
Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley   +1 more source

Evaluation of Visual Pathways in Children with Neuronal Ceroid Lipofuscinosis: Diffusion Tensor Imaging Findings

Objective: The aim of our study is to evaluate whether there were any diffusion tensor imaging (DTI) parameter changes in the visual pathways in children with neuronal ceroid lipofuscinosis (NCL) for the early detection of visual pathway damage ...
Gözde Yeşil Sayın, Bahar Atasoy, Akın İşcan, Hafize Otcu Temur, Alpay Alkan   +4 more
core   +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

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

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Neuronal Ceroid-Lipofuscinosis in a Labrador Retriever

, 2003
An 8-year-old Labrador Retriever with an 11-month history of progressive partial seizures and necropsy examination findings characteristic of the lamellar form of canine neuronal ceroid-lipofuscinosis (NCL) is presented. The clinical, light microscopic,
John H. Rossmeisl, Erin S. Herring, Robert Duncan, Jonathan Fox, Karen D. Inzana   +4 more
core   +1 more source

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation

, 2022
Mutations in DNAJC5/CSPα are associated with adult neuronal ceroid lipofuscinosis (ANCL), a dominant-inherited neurodegenerative disease featuring lysosome-derived autofluorescent storage materials (AFSMs) termed lipofuscin. Functionally, DNAJC5 has been
Yue Xu (246925), Miao Xu (130624), Layla Saidi (12497462), Yihong Ye (237543), Juhyung Lee (5854112), Konrad Zinsmaier (12497465)   +5 more
core   +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