Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties

Kamate M, Detroja M, Hattiholi V (2019) Neuronal ceroid lipofuscinosis type-11 in an adolescent. Brain Dev 41(6):542–545. https://doi.org/10.1016/j.braindev.2019.03.004

Article  PubMed  Google Scholar 

Simonati A, Williams RE (2022) Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview. Front Neurol 13:811686. https://doi.org/10.3389/fneur.2022.811686

Article  PubMed  PubMed Central  Google Scholar 

Guelbert G, Venier AC, Cismondi IA, Becerra A, Vazquez JC, Fernández EA, De Paul AL, Guelbert N, Noher I, Pesaola F (2022) Neuronal ceroid lipofuscinosis in the South American-Caribbean region: an epidemiological overview. Front Neurol 13:920421. https://doi.org/10.3389/fneur.2022.920421

Article  PubMed  PubMed Central  Google Scholar 

Nóbrega PR, Paiva ARB, Junior A, Lima AD, Cabral PLGSB, Barcelos KSS, Pessoa IP, Souza-Lima ALS, Castro CFL, Freua MAA, Santos F, Rocha ES, Maia MMV, Araújo RE, Ramos RS, Resende JDG, Carvalho RG, Valença GDS, Lima de Carvalho LPA, Melo Jr ES, ... Lynch DS (2024) Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11. Genet Medicine: Official J Am Coll Med Genet 27(1):101291. https://doi.org/10.1016/j.gim.2024.101291. Advance online publication

Henschel L, Conjeti S, Estrada S, Diers K, Fischl B, Reuter M (2020) FastSurfer - a fast and accurate deep learning-based neuroimaging pipeline. NeuroImage 219:117012. https://doi.org/10.1016/j.neuroimage.2020.117012

Article  PubMed  Google Scholar 

Estrada S, Kuegler D, Bahrami E, Xu P, Mousa D, Breteler MMB, Aziz NA, Reuter M (2023) FastSurfer-HypVINN: automated sub-segmentation of the hypothalamus and adjacent structures on high-resolutional brain MRI. Imaging Neurosci 1:1–32. https://doi.org/10.1162/imag_a_00034

Article  Google Scholar 

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 (2020) Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain: J Neurol 143(1):303–319. https://doi.org/10.1093/brain/awz377

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med: Offi J Am Coll Med Genet 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  Google Scholar 

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF (2012) Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet 90(6):1102–1107. https://doi.org/10.1016/j.ajhg.2012.04.021

Article  CAS  PubMed  PubMed Central  Google Scholar 

Van Damme P, Van Hoecke A, Lambrechts D, Vanacker P, Bogaert E, van Swieten J, Carmeliet P, Van Den Bosch L, Robberecht W (2008) Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol 181(1):37–41. https://doi.org/10.1083/jcb.200712039

Article  CAS  PubMed  PubMed Central  Google Scholar 

Martens LH, Zhang J, Barmada SJ, Zhou P, Kamiya S, Sun B, Min SW, Gan L, Finkbeiner S, Huang EJ, Farese RV Jr (2012) Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury. J Clin Investig 122(11):3955–3959. https://doi.org/10.1172/JCI63113

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kaminiów K, Kozak S, Paprocka J (2022) Recent insight into the genetic basis, clinical features, and diagnostic methods for neuronal ceroid lipofuscinosis. Int J Mol Sci 23(10):5729. https://doi.org/10.3390/ijms23105729

Article  CAS  PubMed  PubMed Central  Google Scholar 

Singh RB, Gupta P, Kartik A, Farooqui N, Singhal S, Shergill S, Singh KP, Agarwal A (2021) Ocular manifestations of neuronal ceroid lipofuscinoses. Seminars in Ophthalmology. https://doi.org/10.1080/08820538.2021.1936571

Hamel CP (2007) Cone rod dystrophies. Orphanet ournal of rare diseases 2:7. https://doi.org/10.1186/1750-1172-2-7

Article  Google Scholar 

Chawla H, Tripathy K, Vohra V (2024) Retinal dystrophies. In: StatPearls. StatPearls Publishing [Updated 2024 Oct 29]. Treasure Island (FL). Available from: https://www.ncbi.nlm.nih.gov/books/NBK564379/

Trivisano M, Ferretti A, Calabrese C, Pietrafusa N, Piscitello L, Carfi’ Pavia G, Vigevano F, Specchio N (2022) Neurophysiological findings in neuronal ceroid lipofuscinoses. Front Neurol 13:845877. https://doi.org/10.3389/fneur.2022.845877

Article  PubMed  PubMed Central  Google Scholar 

Canafoglia L, Morbin M, Scaioli V, Pareyson D, D’Incerti L, Fugnanesi V, Tagliavini F, Berkovic SF, Franceschetti S (2014) Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation. Epilepsia 55(6):e56–e59. https://doi.org/10.1111/epi.12632

Article  CAS  PubMed  Google Scholar 

Mole SE (2024) The neuronal ceroid lipofuscinoses. In: Noebels JL, Avoli M, Rogawski MA, Vezzani A, Delgado-Escueta AV (eds) Jasper’s Basic mechanisms of the epilepsies, 5th edn., Chp 50. Oxford University Press, New York, pp 1067–1084

Google Scholar 

Gaitanis J (2011) EEG of degenerative disorders of the central nervous system. In: Schomer DL, Lopes da Silva FH (eds) Niedermeyer’s Electroencephalography – Basic principles, clinical applications and related fields, 6th edn., Chp 15. Wolters Kluwer/Lippincott Williams & Wilkins, New York, pp 281–298

Chang BS, Schomer DL, Niedermeyer E (2011) Normal EEG and sleep: adults and elderly. In: Schomer DL, Lopes da Silva FH (eds) Niedermeyer’s electroencephalography – basic principles, clinical applications and related fields, 6th edn., Chp 11. Wolters Kluwer/Lippincott Williams & Wilkins, New York, pp 183–214

Larsen A, Sainio K, Aberg L, Santavuori P (2001) Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis. Eur J Pediatr Neurology: EJPN : Official J Eur Pediatr Neurol Soc 5(Suppl A):179–183. https://doi.org/10.1053/ejpn.2000.0458

Article  Google Scholar 

Comments (0)

No login
gif