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
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
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
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
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
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
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
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
Comments (0)