Results 31 to 40 of about 2,632 (156)

Cardiac Involvement in Batten Disease

Pediatric Neurology Briefs, 2011
The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
doaj   +1 more source

Phenotypes of Juvenile Batten Disease

Pediatric Neurology Briefs, 1999
The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj   +1 more source

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

Cerolipofuscinose: estudo ultrastrutural de 8 casos.

Acta Médica Portuguesa, 1989
The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type.
C Matias, A Cabral, T Tasso, R Portela, A Jorge, J F Nunes, J Soares   +6 more
doaj   +1 more source

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