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Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS. Nóbrega PR, et al. Genet Med. 2025 Jan;27(1):101291. doi: 10.1016/j.gim.2024.101291. Epub 2024 Oct 9. Genet Med. 2025. PMID: 39394881 Free article.
PURPOSE: Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated families so far. ...Our findings suggest that a slowly progressive neuronal ceroid lipofuscinosis might be a clue for the di …
PURPOSE: Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated famil …
The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.
Shi D, Bao J, Wu H, Huang B, Zheng Y, Xu F, Wang H, Liu J, Guan S, Du K. Shi D, et al. Neurol Sci. 2025 Nov;46(11):5741-5749. doi: 10.1007/s10072-025-08472-5. Epub 2025 Sep 29. Neurol Sci. 2025. PMID: 41021155 Review.
Ceroid lipofuscinosis type 11 (CLN11) is an extremely rare inherited neurodegenerative disorder, with only 29 cases reported worldwide to date. ...Our study may advance current understanding of GRN-related neurodegenerative disorders and expand …
Ceroid lipofuscinosis type 11 (CLN11) is an extremely rare inherited neurodegenerative disorder, with only 29 ca …
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
Sürücü Kara İ, Köse E, Çavdarlı B, Eminoğlu FT. Sürücü Kara İ, et al. J Pediatr Endocrinol Metab. 2024 Jan 23;37(3):280-288. doi: 10.1515/jpem-2023-0411. Print 2024 Mar 25. J Pediatr Endocrinol Metab. 2024. PMID: 38253347 Review.
OBJECTIVES: Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressive cognitive decline, epilepsy, visual impairment, retinal atrophy, cerebellar ataxia and cerebellar atrophy. ...A whole-exome sequencing mo …
OBJECTIVES: Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressi …
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Huin V, et al. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Brain. 2020. PMID: 31855245 Free article.
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beg …
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11) …
Neuronal ceroid lipofuscinosis type-11 in an adolescent.
Kamate M, Detroja M, Hattiholi V. Kamate M, et al. Brain Dev. 2019 Jun;41(6):542-545. doi: 10.1016/j.braindev.2019.03.004. Epub 2019 Mar 25. Brain Dev. 2019. PMID: 30922528
Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. ...MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for who …
Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellul …
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, Seeley WW, Miller BL, Bigio E, Mesulam MM, Bogyo MS, Mackenzie IR, Staropoli JF, Cotman SL, Huang EJ, Gan L, Green AJ. Ward ME, et al. Sci Transl Med. 2017 Apr 12;9(385):eaah5642. doi: 10.1126/scitranslmed.aah5642. Sci Transl Med. 2017. PMID: 28404863 Free PMC article.
Homozygous GRN mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease usually seen in children. ...Noninvasive retinal imaging revealed preclinical retinal lipofuscinosis …
Homozygous GRN mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis …
Impaired protein degradation in FTLD and related disorders.
Götzl JK, Lang CM, Haass C, Capell A. Götzl JK, et al. Ageing Res Rev. 2016 Dec;32:122-139. doi: 10.1016/j.arr.2016.04.008. Epub 2016 May 7. Ageing Res Rev. 2016. PMID: 27166223 Review.
Furthermore, the strongest evidence for lysosomal impairment in FTD is provided by the progranulin (GRN) gene, which is linked to FTD and neuronal ceroid lipofuscinosis. In this review, we summarize the observations that have been made during the last …
Furthermore, the strongest evidence for lysosomal impairment in FTD is provided by the progranulin (GRN) gene, which is linked to FTD …
Neuronal ceroid lipofuscinosis type 11 in early childhood.
Singh C, Kiran N, Kampani G, Dhamija K. Singh C, et al. BMJ Case Rep. 2025 May 2;18(5):e265803. doi: 10.1136/bcr-2025-265803. BMJ Case Rep. 2025. PMID: 40316283
Neuronal ceroid lipofuscinosis comprises a group of heterogeneous lysosomal storage disorders characterised by the accumulation of autofluorescent ceroid lipopigment, leading to progressive neurological deterioration. ...Genetic testing using next-gene …
Neuronal ceroid lipofuscinosis comprises a group of heterogeneous lysosomal storage disorders characterised by the accu …
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.
Sassi C, Capozzo R, Hammer M, Zecca C, Federoff M, Blauwendraat C, Bernstein N, Ding J, Gibbs JR, Price T, Singleton A, Logroscino G. Sassi C, et al. Sci Rep. 2021 Mar 18;11(1):6353. doi: 10.1038/s41598-021-85494-x. Sci Rep. 2021. PMID: 33737586 Free PMC article.
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. …
We performed whole exome sequencing in 100 patients with a late-onset and heterogeneous FTD-like clinical phenotype from Apulia and screened …
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, Andermann F, Kmoch S; Adult NCL Gene Discovery Consortium. Jedličková I, et al. Eur J Hum Genet. 2020 Jun;28(6):783-789. doi: 10.1038/s41431-019-0567-2. Epub 2020 Jan 9. Eur J Hum Genet. 2020. PMID: 31919451 Free PMC article.
Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characterized by intralysosomal accumulation of ceroid in tissues. The ceroid accumulation primarily affects the brain, leading to …
Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characte …
11 results