Results 31 to 40 of about 2,625 (156)

Carrier detection of Batten disease (Juvenile neuronal ceroid‐lipofuscinosis) [PDF]

American Journal of Medical Genetics, 1995
AbstractBatten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2.
Taschner, P.E.M., Vos, N. de, Post, J.G., Meijers-Heijboer, E.J., Hofman, I., Loonen, M.C.B., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Gardiner, R.M., Breuning, M.H.   +9 more
openaire   +3 more sources

Clinical, MRI, and Genetic Findings in Batten Disease

Pediatric Neurology Briefs, 1998
The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
doaj   +1 more source

Lamotrigine Therapy in Neuronal Lipofuscinosis

Pediatric Neurology Briefs, 1999
Lamotrigine (LTG) long-term anticonvulsant therapy was evaluated in 29 patients, aged 6-28 years (mean, 14 years), with juvenile neuronal ceroid lipofuscinosis (JNCL), followed for 1-6 years (mean, 3 years) at the Hospital for Children and Adolescents ...
J Gordon Millichap
doaj   +1 more source

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report

Frontiers in Neurology, 2022
Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases.
Giancarlo Todiere, Stefania Della Vecchia, Maria Aurora Morales, Andrea Barison, Ivana Ricca, Alessandra Tessa, Elisa Colombi, Filippo Maria Santorelli   +7 more
doaj   +1 more source

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis [PDF]

Brain Research, 2009
Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting from a mutation in CLN3, which presents clinically with visual deterioration, seizures, motor impairments, cognitive decline, hallucinations, loss of circadian rhythm, and premature death in the late-twenties to early-thirties. Using a Cln3 null (
Weimer, Jill M., Benedict, Jared W., Getty, Amanda L., Pontikis, Charlie C., Lim, Ming J., Cooper, Jonathan D., Pearce, David A.   +6 more
openaire   +3 more sources

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

Epilepsy and Antiepileptic Drug Therapy in Juvenile Neuronal Ceroid Lipofuscinosis [PDF]

Epilepsia, 2000
Summary Purpose: To survey the characteristics of epilepsy in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and determine the antiepileptic drug (AED) treatment most suitable for these patients. Methods: The study included 60 patients with JNCL; their mean age was 16.5 years (range 5–33).
L E, Aberg, M, Bäckman, E, Kirveskari, P, Santavuori   +3 more
openaire   +2 more sources

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Molecular Genetics and Metabolism Reports, 2023
Neuronal ceroid lipofuscinosis type1(CLN1), is a one form of the group of neuronal ceroid lipofuscinoses (NCLs), which is a neurodegenerative disorder characterized by progressive psychomotor deterioration, ataxia, epilepsy, and visual impairment ...
Kaoru Eto, Rina Itagaki, Ayumi Takamura, Yoshikatsu Eto, Satoru Nagata   +4 more
doaj   +1 more source

Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early‐onset cases identifies novel Alzheimer's disease loci

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction Less than 10% of early‐onset Alzheimer's disease (EOAD) is explained by known mutations. Methods We conducted genetic linkage analysis of 68 well‐phenotyped Caribbean Hispanic families without clear inheritance patterns or mutations in APP ...
Rong Cheng, Min Tang, Izri Martinez, Temitope Ayodele, Penelope Baez, Dolly Reyes‐Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne Jimenez‐Velazquez, Joseph H. Lee, Gary W. Beecham, Christiane Reitz   +11 more
doaj   +1 more source

The CLN3 gene and protein: What we know

Molecular Genetics & Genomic Medicine, 2019
Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental
Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich   +11 more
doaj   +1 more source