Results 21 to 30 of about 2,625 (156)

A clinical case of type 2 neuronal ceroid lipofuus cynosis caused by a homozygous mutation in the TPP1 gene

Лечащий Врач, 2022
Neuronal ceroid lipofuscinosis is a group of diseases caused by the accumulation of autofluorescent lipid-containing pigments: ceroid and lipofuscin. Pigments form intracellular inclusions that look like curvilinear layered bodies (sometimes resembling ...
A. V. Serezhkina, A. A. Bulkа, I. G. Khmelevskaya, N. S. Razinkova, T. A. Minenkova, M. O. Babkin   +5 more
doaj   +1 more source

Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. [PDF]

Surv Ophthalmol, 2009
Juvenile neuronal ceroid lipofuscinoses, or Batten disease, is the most common type of NCL in the United States and Europe. This devastating disorder presents with vision failure and progresses to include seizures, motor dysfunction, and dementia. Death usually occurs in the third decade, but some patients die before age twenty. Though the mechanism of
Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA.   +3 more
europepmc   +4 more sources

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]

PLoS ONE, 2011
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman   +6 more
doaj   +1 more source

The paediatric rheumatologist and orphan disease – a story without happy ending

Rheumatology, 2016
Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent ...
Justyna Roszkiewicz, Małgorzata Biernacka-Zielińska, Elżbieta Smolewska   +2 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +2 more sources

Juvenile neuronal ceroid lipofuscinosis and education

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2013
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. There is presently no cure and the disease leads to premature death.
von Tetzchner, Stephen, Fosse, Per, Elmerskog, Bengt   +2 more
openaire   +2 more sources

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

Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. [PDF]

Dev Med Child Neurol, 2015
AimTo evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL).MethodData from an ongoing natural history study of JNCL were analyzed using cross‐sectional and longitudinal methods. Seizures were evaluated with the Unified Batten Disease Rating Scale, a disease‐specific quantitative ...
Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, Marshall F, Block R, Dolan J, Mink JW, Batten Study Group.   +10 more
europepmc   +4 more sources

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

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