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Journal articles on the topic 'Canavan Disease'

Author: Grafiati

Published: 4 June 2021

Last updated: 30 January 2023

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1

Matalon, Reuben, and Kimberlee Michals Matalon. "Canavan disease." Obstetrics and Gynecology Clinics of North America 29, no. 2 (June 2002): 297–304. http://dx.doi.org/10.1016/s0889-8545(01)00003-1.

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2

Baslow, Morris H., and Tracy R. Resnik. "Canavan disease." Journal of Molecular Neuroscience 9, no. 2 (October 1997): 109–25. http://dx.doi.org/10.1007/bf02736855.

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3

Matalon, Reuben. "Canavan disease." Molecular and Chemical Neuropathology 27, no. 1 (January 1996): 54–57. http://dx.doi.org/10.1007/bf02815040.

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4

Bakon, M., S. Strauss, I. Shental, and O. N. Elpeleg. "Cholelithiasis in Canavan disease." Journal of Ultrasound in Medicine 12, no. 6 (June 1993): 363–64. http://dx.doi.org/10.7863/jum.1993.12.6.363.

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5

Michel, Steven J., and Curtis A. Given. "Case 99: Canavan Disease." Radiology 241, no. 1 (October 2006): 310–24. http://dx.doi.org/10.1148/radiol.2411040165.

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6

Dirik, Mehmet Alp, Burcin Sanlidag, Eray Dirik, and Nail Bulakbasi. "Canavan Disease and Recent Advances." Cyprus Journal of Medical Sciences 6, no. 3 (November 1, 2021): 273–78. http://dx.doi.org/10.5152/cjms.2021.953.

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7

Schober, Harald, Juerg Luetschg, Isabella Hoeliner, Stefanie Kalb, and Burkhard Simma. "Canavan Disease: A Novel Mutation." Pediatric Neurology 45, no. 4 (October 2011): 256–58. http://dx.doi.org/10.1016/j.pediatrneurol.2011.06.011.

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8

Matalon, Reuben, and Kimberlee Michals-Matalon. "Molecular basis of Canavan disease." European Journal of Paediatric Neurology 2, no. 2 (January 1998): 69–76. http://dx.doi.org/10.1016/s1090-3798(98)80044-5.

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9

Janson, Christopher G., Mitra Assadi, Jeremy Francis, Larissa Bilaniuk, David Shera, and Paola Leone. "Lithium Citrate for Canavan Disease." Pediatric Neurology 33, no. 4 (October 2005): 235–43. http://dx.doi.org/10.1016/j.pediatrneurol.2005.04.015.

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10

Drera, B., and C. Poggiani. "Brain ultrasound in Canavan disease." Journal of Ultrasound 17, no. 3 (June 21, 2014): 215–17. http://dx.doi.org/10.1007/s40477-014-0108-3.

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11

Srikanth, S. G., H. S. Chandrashekar, K. Nagarajan, and P. N. Jayakumar. "Restricted diffusion in Canavan disease." Child's Nervous System 23, no. 4 (January 12, 2007): 465–68. http://dx.doi.org/10.1007/s00381-006-0238-9.

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12

Bartalini, G., M. Margollicci, P. Balestri, M. A. Farnetani, M. Cioni, and A. Fois. "Biochemical diagnosis of Canavan disease." Child's Nervous System 8, no. 8 (December 1992): 468–70. http://dx.doi.org/10.1007/bf00274411.

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13

Jakobs, C., H. J. ten Brink, P. Divry, and M. O. Rolland. "Prenatal diagnosis of Canavan disease." European Journal of Pediatrics 151, no. 8 (August 1992): 620. http://dx.doi.org/10.1007/bf01957737.

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14

Matalon, R., K. Michals, P. Gashkoff, and R. Kaul. "Prenatal diagnosis of canavan disease." Journal of Inherited Metabolic Disease 15, no. 3 (May 1992): 392–94. http://dx.doi.org/10.1007/bf02435985.

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15

Ozand, P. T., R. R. Feryal, G. G. Gascon, H. Gleispach, A. Al Aqeel, J. D. Cook, M. J. Nester, A. Al Odaib, and HansJ Leis. "Prenatal detection of Canavan disease." Lancet 337, no. 8743 (March 1991): 735–36. http://dx.doi.org/10.1016/0140-6736(91)90323-h.

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16

Fink, David J. "Gene therapy for Canavan disease?" Annals of Neurology 48, no. 1 (July 2000): 9–10. http://dx.doi.org/10.1002/1531-8249(200007)48:1<9::aid-ana3>3.0.co;2-f.

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17

Zayed, Hatem. "Canavan disease: An Arab scenario." Gene 560, no. 1 (April 2015): 9–14. http://dx.doi.org/10.1016/j.gene.2015.02.009.

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18

Iriarte, B. De Alba, M. Unceta Suarez, M. Lacasta Esain, E. Bereciartua Urbieta, I. Perez Casas, A. Cojo Espinilla, M. A. Vives Almandoz, and A. Garrido Chercoles. "Canavan disease. Clinical case report." Clinica Chimica Acta 493 (June 2019): S228. http://dx.doi.org/10.1016/j.cca.2019.03.472.

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19

Matalon, Reuben, and Kimberlee Michals-Matalon. "Prenatal diagnosis of Canavan disease." Prenatal Diagnosis 19, no. 7 (July 1999): 669–70. http://dx.doi.org/10.1002/(sici)1097-0223(199907)19:7<669::aid-pd630>3.0.co;2-n.

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20

Daraz, Zahoor Hussain, Berkheez Shabir, and Rehana Afshan. "Canavan Disease - A Rare Case Report." International Journal of Science and Healthcare Research 6, no. 4 (December 29, 2021): 348–50. http://dx.doi.org/10.52403/ijshr.20211048.

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Abstract:

Canavan disease is a rare autosomal recessive disorder characterized by progressive leukodystrophy involving white matter of the brain. Disease leads to severe psychomotor retardation, seizures and premature death. More prevalent among Jewish population. Among non-Jewish population incidence is approximately 1:100000. Prognosis is guarded with current management only symptomatic and supportive. There is no effective treatment, however early gene therapy has improved the quality of life of patients. Furthermore, Lithium citrate has also shown certain positive results in experimental models using rats. Even few human studies have also been done, however promising results require larger controlled trials. Keywords: MRI: Magnetic Resonance and Imaging, EEG: Electro Encephalogram, CD: Canavan Disease, ASPA: acetyl aspartate, LUCS: Lower Uterine Cesarean Section, OFC: Occipito Frontal Circumference, NAA: N-acetyl aspartate

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21

Elpeleg, O., N. Amir, V. Barash, B. Glick, V. Gross-Tsur, E. Shachar, Y. Shapira, and N. Tzelnik. "Canavan Disease and N-Acetylaspartic Aciduria." Neuropediatrics 20, no. 04 (November 1989): 238. http://dx.doi.org/10.1055/s-2008-1071301.

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22

MATALON, REUBEN. "Canavan Disease: Diagnosis and Molecular Analysis." Genetic Testing 1, no. 1 (January 1997): 21–25. http://dx.doi.org/10.1089/gte.1997.1.21.

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23

Francois, Jethro, and Jose M. Manaligod. "Upper airway abnormalities in Canavan disease." International Journal of Pediatric Otorhinolaryngology 66, no. 3 (December 2002): 303–7. http://dx.doi.org/10.1016/s0165-5876(02)00258-6.

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24

Traeger, Eveline C., and Isabelle Rapin. "The Clinical Course of Canavan Disease." Pediatric Neurology 18, no. 3 (March 1998): 207–12. http://dx.doi.org/10.1016/s0887-8994(97)00185-9.

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25

Pleasure, David, Fuzheng Guo, Olga Chechneva, Peter Bannerman, Jennifer McDonough, Travis Burns, Yan Wang, and Vanessa Hull. "Pathophysiology and Treatment of Canavan Disease." Neurochemical Research 45, no. 3 (December 8, 2018): 561–65. http://dx.doi.org/10.1007/s11064-018-2693-6.

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26

Namboodiri, Aryan, C. Madhavarao, P. Arun, S. Mog, N. Grunberg, W. Gahl, Y. Anikster, and J. Moffett. "96. Canavan disease treatment using glyceryltriacetate." Molecular Genetics and Metabolism 96, no. 2 (February 2009): S33. http://dx.doi.org/10.1016/j.ymgme.2008.11.097.

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27

Matalon, R., R. Kaul, and K. Michals. "Canavan disease: Biochemical and molecular studies." Journal of Inherited Metabolic Disease 16, no. 4 (1993): 744–52. http://dx.doi.org/10.1007/bf00711906.

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28

Yaron, Yuval, Tamar Schwartz, Nava Mey-Raz, Ami Amit, Joseph B. Lessing, and Mira Malcov. "Preimplantation Genetic Diagnosis of Canavan Disease." Fetal Diagnosis and Therapy 20, no. 5 (2005): 465–68. http://dx.doi.org/10.1159/000086834.

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29

Johnson, A. B., M. T. Cody, R. Kaul, V. Spada, M. B. Bornstein, and R. Matalon. "ASPARTOACYLASE DEFICIENCY & CANAVAN DISEASE (CD)." Journal of Neuropathology and Experimental Neurology 52, no. 3 (May 1993): 332. http://dx.doi.org/10.1097/00005072-199305000-00287.

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30

Kumar, Shalini, Natalia S. Mattan, and Jean de Vellis. "Canavan disease: A white matter disorder." Mental Retardation and Developmental Disabilities Research Reviews 12, no. 2 (2006): 157–65. http://dx.doi.org/10.1002/mrdd.20108.

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31

Baslow, Morris H., David N. Guilfoyle, and Rui-Lin Liu. "Rescuing Canavan Disease: Support For The Astrocyte Hypothesis Of Canavan Disease Generation And A Possible Human Cure." Journal of Glycomics and Metabolism 1, no. 2 (April 27, 2017): 23–28. http://dx.doi.org/10.14302/issn.2572-5424.jgm-17-1482.

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32

AKMAZ ÜNLÜ, Havva, Namık Kemal ALTINBAŞ, Serap TEBER, Betül Emine DERİNKUYU, Süleyman Ersin ÜNLÜ, Nadide Başak G. GÜLEROĞLU, and Aydan DEĞERLİYURT. "Canavan Disease Mri and Mrs Findings: 3 Different Cases." Turkish Journal of Pediatric Disease 7, no. 4 (December 21, 2013): 201–5. http://dx.doi.org/10.12956/tjpd.2013.31.

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33

Howell, V. M., A. L. Proos, D. LaRue, C. H. Jensen, F. Beach, and L. Burnett. "Carrier screening for Canavan disease in Australia." Journal of Inherited Metabolic Disease 27, no. 2 (March 2004): 289–90. http://dx.doi.org/10.1023/b:boli.0000028837.63607.f0.

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34

Edo Solsona, María Dolores, Laura Lorente Fernández, Emilio Monte Boquet, and José Luís Poveda Andrés. "Lithium Citrate as Treatment of Canavan Disease." Clinical Neuropharmacology 35, no. 3 (2012): 150–51. http://dx.doi.org/10.1097/wnf.0b013e3182515c9d.

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35

Kupietzky, Ari, Judith S. Guedalia, and Alexander Tanenbaum. "Canavan disease—An expanded role for dentists." Special Care in Dentistry 18, no. 3 (May 1998): 119–22. http://dx.doi.org/10.1111/j.1754-4505.1998.tb00916.x.

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36

Hamamy, Hanan, and Amira Masri. "Canavan disease: A first case from Jordan." Journal of Pediatric Neurology 04, no. 02 (July 29, 2015): 143–46. http://dx.doi.org/10.1055/s-0035-1557307.

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37

Starling, Shimona. "Targeted aspartoacylase gene therapy reverts Canavan disease." Nature Reviews Neurology 14, no. 1 (November 24, 2017): 4. http://dx.doi.org/10.1038/nrneurol.2017.170.

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38

Sener, R. Nuri. "Canavan Disease: Diffusion Magnetic Resonance Imaging Findings." Journal of Computer Assisted Tomography 27, no. 1 (January 2003): 30–33. http://dx.doi.org/10.1097/00004728-200301000-00006.

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39

Gordon, Neil. "Canavan disease: A review of recent developments." European Journal of Paediatric Neurology 5, no. 2 (March 2001): 65–69. http://dx.doi.org/10.1053/ejpn.2001.0467.

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40

Toft, P. B., R. Geiß-Holtorff, M. O. Rolland, O. Pryds, W. Müller-Forell, E. Christensen, W. Lehnert, et al. "Magnetic resonance imaging in juvenile Canavan disease." European Journal of Pediatrics 152, no. 9 (September 1993): 750–53. http://dx.doi.org/10.1007/bf01953994.

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41

Michelakakis, H., S. Giouroukos, P. Divry, E. Katsarou, M. O. Rolland, and A. Skardoutsou. "Canavan disease: findings in four new cases." Journal of Inherited Metabolic Disease 14, no. 2 (March 1991): 267–68. http://dx.doi.org/10.1007/bf01800603.

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42

Roscoe, Rebecca B., Christina Elliott, Apostolos Zarros, and George S. Baillie. "Non-genetic therapeutic approaches to Canavan disease." Journal of the Neurological Sciences 366 (July 2016): 116–24. http://dx.doi.org/10.1016/j.jns.2016.05.012.

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43

Rolland, M. O., P. Divry, G. Mandon, J. M. Thoulon, A. Fiumara, and M. Mathieu. "First-trimester prenatal diagnosis of Canavan disease." Journal of Inherited Metabolic Disease 16, no. 3 (1993): 581–83. http://dx.doi.org/10.1007/bf00711687.

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44

Kaul, R., G. P. Gao, K. Balamurugan, and R. Matalon. "Canavan disease: Molecular basis of aspartoacylase deficiency." Journal of Inherited Metabolic Disease 17, no. 3 (1994): 295–97. http://dx.doi.org/10.1007/bf00711811.

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45

Sreenivasan, Priya, and K. K. Purushothaman. "Radiological Clue to Diagnosis of Canavan Disease." Indian Journal of Pediatrics 80, no. 1 (June 2, 2012): 75–77. http://dx.doi.org/10.1007/s12098-012-0794-9.

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46

Sommer, Anke, and Jörn Oliver Sass. "Expression of aspartoacylase (ASPA) and Canavan disease." Gene 505, no. 2 (September 2012): 206–10. http://dx.doi.org/10.1016/j.gene.2012.06.036.

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47

Gowda, Vykuntaraju K., Maya D. Bhat, Varun M. Srinivasan, Chandrajit Prasad, Asha Benakappa, and Mohammed Faruq. "A case of Canavan disease with microcephaly." Brain and Development 38, no. 8 (September 2016): 759–62. http://dx.doi.org/10.1016/j.braindev.2016.03.001.

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48

Zano, Stephen, Yasanandana S. Wijayasinghe, Radhika Malik, Joshua Smith, and Ronald E. Viola. "Relationship between enzyme properties and disease progression in Canavan disease." Journal of Inherited Metabolic Disease 36, no. 1 (August 1, 2012): 1–6. http://dx.doi.org/10.1007/s10545-012-9520-z.

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49

Neissi, Mostafa, Motahareh Sheikh-Hosseini, and Javad Mohammadi-Asl. "A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report." International Journal of Biomedicine 11, no. 4 (December 10, 2021): 594–97. http://dx.doi.org/10.21103/article11(4)_cr2.

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Abstract:

Canavan disease is an autosomal recessive genetic disease and rare fatal childhood neurological disorder caused by mutations in the ASPA gene, which resulted in a catalytic deficiency of the ASPA enzyme that catalyzes the hydrolysis of NAA into aspartate and acetate. Herein, we report an Iranian patient diagnosed with Canavan disease with a novel splice-site mutation in the ASPA gene (NM_000049.4; c.432+1 G>C). This report is based on a homozygous c.432+1 G>C mutation in the ASPA gene identified from an Iranian patient. As a result, a novel homozygous pathogenic mutation on ASPA is the cause of disease in the patient.

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50

Nakhi, H. B., A. I. Jhon, and R. Pinto. "533 Canavan Disease: A Case Report from Kuwait." Archives of Disease in Childhood 97, Suppl 2 (October 1, 2012): A155. http://dx.doi.org/10.1136/archdischild-2012-302724.0533.

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