Results 1 to 10 of about 2,145 (142)

Dual-function AAV gene therapy reverses late-stage Canavan disease pathology in mice [PDF]

Frontiers in Molecular Neuroscience, 2022
The leukodystrophy Canavan disease is a fatal white matter disorder caused by loss-of-function mutations of the aspartoacylase-encoding ASPA gene. There are no effective treatments available and experimental gene therapy trials have failed to provide ...
Dominik Fröhlich, Elizabeth Kalotay, Georg von Jonquieres, Andre Bongers, Brendan Lee, Alexandra K. Suchowerska, Gary D. Housley, Matthias Klugmann, Matthias Klugmann   +8 more
doaj   +2 more sources

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation [PDF]

Molecular Therapy: Methods & Clinical Development, 2023
Gene replacement therapy is a rational therapeutic strategy and clinical intervention for neurodegenerative disorders like Canavan disease, a leukodystrophy caused by biallelic mutations in the aspartoacylase (ASPA) gene.
Manuela Corti, Barry J. Byrne, Dominic J. Gessler, Grace Thompson, Samantha Norman, Jenna Lammers, Kirsten E. Coleman, Cristina Liberati, Melissa E. Elder, Maria L. Escolar, Ibrahim S. Tuna, Clementina Mesaros, Gary I. Kleiner, Deborah S. Barbouth, Heather L. Gray-Edwards, Nathalie Clement, Brian D. Cleaver, Guangping Gao   +17 more
doaj   +2 more sources

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature [PDF]

SAGE Open Medical Case Reports, 2023
Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable seizures and visual impairment. A 14-month-old female infant with a complaint
Rana Irilouzadian, Ali Goudarzi, Hamed Hesami, Roham Sarmadian, Habibe Nejad Biglari, Abolfazl Gilani   +5 more
doaj   +2 more sources

Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair [PDF]

Frontiers in Cellular Neuroscience, 2021
In recent years, the scientific and therapeutic fields for rare, genetic central nervous system (CNS) diseases such as leukodystrophies, or white matter disorders, have expanded significantly in part due to technological advancements in cellular and ...
Anoushka Lotun, Anoushka Lotun, Dominic J. Gessler, Dominic J. Gessler, Dominic J. Gessler, Guangping Gao, Guangping Gao, Guangping Gao   +7 more
doaj   +2 more sources

Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene [PDF]

iScience, 2022
Summary: Canavan disease (CD) is a devastating neurological disease that lacks effective therapy. Because CD is caused by mutations of the aspartoacylase (ASPA) gene, we introduced the wild-type (WT) ASPA gene into patient iPSCs through lentiviral ...
Jianfei Chao, Lizhao Feng, Peng Ye, Xianwei Chen, Qi Cui, Guihua Sun, Tao Zhou, E Tian, Wendong Li, Weidong Hu, Arthur D. Riggs, Reuben Matalon, Yanhong Shi   +12 more
doaj   +2 more sources

Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease [PDF]

Cell & Bioscience
Canavan disease is an autosomal recessive and lethal neurological disorder, characterized by the spongy degeneration of the white matter in the brain. The disease is caused by a deficiency of the cytosolic aspartoacylase (ASPA) enzyme, which catalyzes ...
Martin Grønbæk-Thygesen, Rasmus Hartmann-Petersen   +1 more
doaj   +2 more sources

The natural history of Canavan disease: 23 new cases and comparison with patients from literature [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and ...
Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler   +9 more
doaj   +2 more sources

A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features [PDF]

JIMD Reports
This case report highlights an atypical presentation of Canavan disease (CD) in a 13‐year‐old female with intention tremor and fine motor difficulties.
Preeya Rehsi, Ata Siddiqui, Rahul Singh, Obioma Ihezue, Rebecca Halligan   +4 more
doaj   +2 more sources

Canavan Disease: Clinical and laboratory profile from Southern part of India

Annals of Indian Academy of Neurology, 2021
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population.
Vykuntaraju K Gowda, Narmadham K Bharathi, Jamunashree Bettaiah, Maya Bhat, Sanjay K Shivappa   +4 more
doaj   +2 more sources

Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease [PDF]

Frontiers in Molecular Neuroscience, 2017
Canavan disease is caused by mutations in the gene encoding aspartoacylase (ASPA), a deacetylase that catabolizes N-acetylaspartate (NAA). The precise involvement of elevated NAA in the pathogenesis of Canavan disease is an ongoing debate. In the present
Abhilash P. Appu, John R. Moffett, Peethambaran Arun, Sean Moran, Vikram Nambiar, Jishnu K. S. Krishnan, Narayanan Puthillathu, Aryan M. A. Namboodiri   +7 more
doaj   +2 more sources