scholarly journals A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis

2007 ◽  
Vol 17 (2) ◽  
pp. 303-312 ◽  
Author(s):  
C. Kitzmuller ◽  
R. L. Haines ◽  
S. Codlin ◽  
D. F. Cutler ◽  
S. E. Mole
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
The Common

Late onset neurodegeneration in the Cln3−/− mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation

2004 ◽  
Vol 1023 (2) ◽  
pp. 231-242 ◽  
Author(s):  
Charlie C. Pontikis ◽  
Claire V. Cella ◽  
Nisha Parihar ◽  
Ming J. Lim ◽  
Shubhodeep Chakrabarti ◽  
...  
Keyword(s):  
Mouse Model ◽  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Glial Activation ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Low Level ◽  
Ceroid Lipofuscinosis

scholarly journals Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Celeste Sassi ◽  
Rosa Capozzo ◽  
Monia Hammer ◽  
Chiara Zecca ◽  
Monica Federoff ◽  
...  
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Primary Progressive Aphasia ◽  
Complex Spectrum ◽  
Site Mutation ◽  
Progressive Aphasia ◽  
Pathogenic Mechanisms ◽  
Primary Progressive ◽  
Ceroid Lipofuscinosis ◽  
Sporadic Cases

AbstractFrontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great portion of the Mendelian forms of the disease, still a significant number of families and sporadic cases remains genetically unsolved. We performed whole exome sequencing in 100 patients with a late-onset and heterogeneous FTD-like clinical phenotype from Apulia and screened mendelian dementia and neuronal ceroid lipofuscinosis genes. We identified a nonsense mutation in SORL1 VPS domain (p.R744X), in 2 siblings displaying AD with severe language problems and primary progressive aphasia and a near splice-site mutation in CLCN6 (p.S116P) segregating with an heterogeneous phenotype, ranging from behavioural FTD to FTD with memory onset and to the logopenic variant of primary progressive aphasia in one family. Moreover 2 sporadic cases with behavioural FTD carried heterozygous mutations in the CSF1R Tyrosin kinase flanking regions (p.E573K and p.R549H). By contrast, only a minority of patients carried pathogenic C9orf72 repeat expansions (1%) and likely moderately pathogenic variants in GRN (p.C105Y, p.C389fs and p.C139R) (3%). In concert with recent studies, our findings support a common pathogenic mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investigated also in dementia patients with predominant frontal symptoms and language impairments.

Altered Flurothyl Seizure Induction Latency, Phenotype, and Subsequent Mortality in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis/Batten Disease

Epilepsia ◽  
2002 ◽  
Vol 43 (10) ◽  
pp. 1137-1140 ◽  
Author(s):  
Elizabeth Kriscenski-Perry ◽  
Craig D. Applegate ◽  
Andrew Serour ◽  
Timothy R. Mhyre ◽  
Christopher C. Leonardo ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

1974 ◽  
Vol 32 (1) ◽  
pp. 1-14 ◽  
Author(s):  
Luciano de Souza Queiroz ◽  
Joaquim N. da Cruz Neto ◽  
J. Lopes de Faria
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Cerebral Atrophy ◽  
Cell Loss ◽  
Storage Material ◽  
Brazilian Literature ◽  
Ceroid Lipofuscinosis ◽  
Tay Sachs Disease ◽  
Gerontological Research

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

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