scholarly journals Neuronal Ceroid Lipofuscinosis Type 1

2020 ◽  
Author(s):  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Lorena Travaglini ◽  
Chiara Aiello ◽  
Viola Alesi ◽  
Sara Loddo ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 184-185
Author(s):  
Yo Niida ◽  
Ayano Yokoi ◽  
Mondo Kuroda ◽  
Yusuke Mitani ◽  
Hiroyasu Nakagawa ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

2014 ◽  
Vol 14 (8) ◽  
pp. 1043-1051 ◽  
Author(s):  
A. Simonati ◽  
F. Pezzini ◽  
F. Moro ◽  
F.M. Santorelli
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
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.

Neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog

1995 ◽  
Vol 91 (1) ◽  
pp. 33-47 ◽  
Author(s):  
Anders Wrigstad ◽  
Sven Erik G. Nilsson ◽  
Richard Dubielzig ◽  
Kristina Narfstr�m
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis
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