Results 21 to 30 of about 2,632 (156)

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

Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.

J Pediatr Neurosci, 2013
We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL).
Khan A, Chieng KS, Baheerathan A, Hussain N, Gosalakkal J.   +4 more
europepmc   +4 more sources

Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases.

J Pediatr Neurosci, 2013
The diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) is usually based on age of onset, initial clinical symptoms, clinical progression, and pathologic findings. Our cases manifested atypical clinical symptomatology and/or pathologic findings and therefore, represent variant forms of JNCL.
Setty G, Saleem R, Khan A, Hussain N.
europepmc   +4 more sources

Reversible synaptic deficits in early-stage batten disease [PDF]

Journal of Translational Medicine
Background Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani, Chloe M. Hall, Thomas Mittmann, Benedikt Grünewald, Jakob von Engelhardt   +4 more
doaj   +2 more sources

A timeline of symptom onset and disease progression in CLN3 disease [PDF]

Orphanet Journal of Rare Diseases
Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in early adulthood ...
Ineka T. Whiteman, Anthony L. Cook, Erika F. Augustine, Aidan D. Bindoff, Alexandra M. Johnson, Heather L. Mason, Jonathan W. Mink, John R. Østergaard, Angela Schulz, Jennifer Vermilion, Amy Vierhile, Heather R. Adams   +11 more
doaj   +2 more sources

Aberrant adhesion impacts early development in aDictyosteliummodel for juvenile neuronal ceroid lipofuscinosis [PDF]

Cell Adhesion and Migration, 2017
Robert Huber, Susan Cotman, Michael A Myre   +2 more
exaly   +2 more sources

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

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

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