Severe retinal degeneration in a patient with Canavan disease

References

• Canavan MM. Schilder’s encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months. Arch Neur Psych. 1931;25:299–308. doi:10.1001/archneurpsyc.1931.02230020085005.
   Google Scholar
• Bokhari MR, Samanta D, Bokhari SRA. Canavan disease. Treasure Island, FL: StatPearls Publishing LLC, 2020. ID:NBK430816.
   Google Scholar
• Matalon R, Delgado L, Michals-Matalon K. Canavan disease. GeneReviews. 2018. http://www.genereviews.org/.
   Google Scholar
• Hoshino H, Kubota M. Canavan disease: clinical features and recent advances in research. Pediatr Int. 2014;56:477–83. doi:10.1111/ped.12422.
   PubMed Web of Science ®Google Scholar
• Appu AP, Moffett JR, Arun P, Moran S, Nambiar V, Krishnan JKS, Puthillathu N, Namboodiri AMA. Increasing N-acetylaspartate in the brain during postnatal myelination does not cause the CNS pathologies of Canavan disease. Front Mol Neurosci. 2017;10:161. doi:10.3389/fnmol.2017.00161.
   PubMed Web of Science ®Google Scholar
• Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol. 2001;5:65–69. doi:10.1053/ejpn.2001.0467.
   PubMedGoogle Scholar
• Karimzadeh P, Jafari N, Nejad Biglari H, Rahimian E, Ahmadabadi F, Nemati H, Nasehi MM, Ghofrani M, Mollamohammadi M. The clinical features and diagnosis of canavan’s disease: a case series of Iranian patients. Iran J Child Neurol. 2014;8:66–71.
   PubMedGoogle Scholar
• Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015;114:501–15. doi:10.1016/j.ymgme.2014.12.434.
   PubMed Web of Science ®Google Scholar
• Surendran S, Bamforth FJ, Chan A, Tyring SK, Goodman SI, Matalon R. Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol. 2003;18:809–12. doi:10.1177/08830738030180111601.
   PubMed Web of Science ®Google Scholar
• Sass JO, Bähr L, Britschgi C, Sommer A, Ferreira P.Canavan disease (CD) revisited: revealing the diagnosis in a mildly affected 24-year-old man. JIMD. 2013;36(suppl 2):s171.
   Google Scholar
• Sommer A, Sass JO. Expression of aspartoacylase (ASPA) and Canavan disease. Gene. 2012;505:206–10. doi:10.1016/j.gene.2012.06.036.
   PubMed Web of Science ®Google Scholar
• Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, et al. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. Neuropediatrics. 2005;36:252–55. doi:10.1055/s-2005-865865.
   PubMed Web of Science ®Google Scholar
• Yalcinkaya C, Benbir G, Salomons GS, Karaarslan E, Rolland MO, Jakobs C, van der Knaap MS. Atypical MRI findings in Canavan disease: a patient with a mild course. Neuropediatrics. 2005;36:336–39. doi:10.1055/s-2005-872878.
   PubMed Web of Science ®Google Scholar
• Velinov M, Zellers N, Styles J, Wisniewski K. Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan’s disease. Clin Genet. 2008;73:288–89.
   PubMed Web of Science ®Google Scholar
• Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, Assadi M, McPhee S, Goldfarb O, Saslow B, et al. Mild-onset presentation of Canavan’s disease associated with novel G212A point mutation in aspartoacylase gene. Ann Neurol. 2006;59:428–31. doi:10.1002/ana.20787.
   PubMed Web of Science ®Google Scholar
• Zafeiriou DI, Kleijer WJ, Maroupoulos G, Anastasiou AL, Augoustidou-Savvopoulou P, Papadopoulou F, Kontopoulos EE, Fagan E, Payne S. Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings. Brain Dev. 1999;21:205–08. doi:10.1016/S0387-7604(99)00003-0.
   PubMed Web of Science ®Google Scholar
• Pagon RA. Retinitis pigmentosa. Surv Ophthalmol. 1988 Nov-Dec;33(3):137–77. doi:10.1016/0039-6257(88)90085-9.
   PubMed Web of Science ®Google Scholar
• Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, et al. Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration. JAMA Ophthalmol. 2017;135:749–60. doi:10.1001/jamaophthalmol.2017.1401.
   PubMed Web of Science ®Google Scholar
• Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, et al. Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140. Invest Ophthalmol Vis Sci. 2016;57:1053–62. doi:10.1167/iovs.15-17976.
   PubMed Web of Science ®Google Scholar
• Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, et al. Clinical characteristics and natural history of RHO-associated retinitis pigmentosa: a long-term follow-up study. Retina. 2020 Apr 15. PMID: 32301896. doi:10.1097/IAE.0000000000002808.
   Web of Science ®Google Scholar
• Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel IP, MacLaren RE. Clinical and molecular characterization of PROM1-related retinal degeneration. JAMA Netw Open. 2019;2:e195752. doi:10.1001/jamanetworkopen.2019.5752.
   PubMed Web of Science ®Google Scholar
• Truckenmiller ME, Nemboodiri MA, Brownstein MJ, Neale JH. N-acetylation of L-aspartate in the nervous system: differential distribution of a specific enzyme. J Neurochem. 1985;45:1658–62. doi:10.1111/j.1471-4159.1985.tb07240.x.
   PubMed Web of Science ®Google Scholar
• Bjartmar C, Battistuta J, Terada N, Dupree E, Trapp BD. N-acetylaspartate is an axon-specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve. Ann Neurol. 2002;51:51–58. doi:10.1002/ana.10052.
   PubMed Web of Science ®Google Scholar
• George RL, Huang W, Naggar HA, Smith SB, Ganapathy V. Transport of N-acetylaspartate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse. Biochim Biophys Acta. 2004;1690:63–69. doi:10.1016/j.bbadis.2004.05.009.
   PubMed Web of Science ®Google Scholar
• Traka M, Wollmann RL, Cerda SR, Dugas J, Barres BA, Popko B. Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS. J Neurosci. 2008;28:11537–49. doi:10.1523/JNEUROSCI.1490-08.2008.
   PubMed Web of Science ®Google Scholar
• Mersmann N, Tkachev D, Jelinek R, Röth PT, Möbius W, Ruhwedel T, Rühle S, Weber-Fahr W, Sartorius A, Klugmann M. Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. PLoS One. 2011;6:e20336. doi:10.1371/journal.pone.0020336.
   PubMed Web of Science ®Google Scholar
• Ahmed SS, Li H, Cao C, Sikoglu EM, Denninger AR, Su Q, Eaton S, Liso Navarro AA, Xie J, Szucs S, et al. A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice. Mol Ther. 2013;21:2136–47. doi:10.1038/mt.2013.138.
   PubMed Web of Science ®Google Scholar
• Fernández-Medarde A, Barhoum R, Riquelme R, Porteros A, Núñez A, de Luis A, de Las Rivas J, de la Villa P, Varela-Nieto I, Santos E. RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations. J Neurochem. 2009;110:641–52. doi:10.1111/j.1471-4159.2009.06162.x.
   PubMed Web of Science ®Google Scholar
• Nguyen HV, Ishak GE. Canavan disease: unusual clinical features in a child with mild clinical presentation. Pediatr Radiol. 2015;45:457–60. doi:10.1007/s00247-014-3116-8.
   PubMed Web of Science ®Google Scholar
• Sarret C, Boespflug-Tanguy O, Rodriguez D. Atypical clinical and radiological course of a patient with Canavan disease. Metab Brain Dis. 2016;31:475–79. doi:10.1007/s11011-015-9767-9.
   PubMed Web of Science ®Google Scholar