Thelansis

 Canavan disease (CD) is a genetic degenerative brain disease caused by a lack of the enzyme aspartoacylase (ASPA). N-acetylaspartic acid builds up in the brain and other body parts when ASPA activity is lost. CD is diagnosed by detecting elevated NAA in urine, blood, or the brain by proton MR spectroscopy and ASPA mutation analysis. Insufficient myelination and progressive spongy degeneration of the brain's white matter characterize the disease histologically. While not all Canavan disease (CD) patients had epilepsy in their early years, seizure prevalence increased over the first decade, with all CD patients having seizures by ten. Multiple antispasmodic or antiepileptic drugs are frequently required to treat neurological symptoms such as seizures and spasticity. Canavan disease (CD) is caused by mutations in the ASPA gene (17p13.3), which codes for the aspartoacylase enzyme. Numerous mutations have been discovered, and enzymatic activity is either low or non-existent as a result...

  Canavan disease (CD) is a genetic degenerative brain disease caused by a lack of the enzyme aspartoacylase (ASPA). N-acetylaspartic acid builds up in the brain and other body parts when ASPA activity is lost. CD is diagnosed by detecting elevated NAA in urine, blood, or the brain by proton MR spectroscopy and ASPA mutation analysis. Insufficient myelination and progressive spongy degeneration of the brain's white matter characterize the disease histologically. While not all Canavan disease (CD) patients had epilepsy in their early years, seizure prevalence increased over the first decade, with all CD patients having seizures by ten. Multiple antispasmodic or antiepileptic drugs are frequently required to treat neurological symptoms such as seizures and spasticity. Canavan disease (CD) is caused by mutations in the ASPA gene (17p13.3), which codes for the aspartoacylase enzyme. Numerous mutations have been discovered, and enzymatic activity is either low or non-existent as a resul...

  Canavan disease (CD) is a genetic degenerative brain disease caused by a lack of the enzyme aspartoacylase (ASPA). N-acetylaspartic acid builds up in the brain and other body parts when ASPA activity is lost. CD is diagnosed by detecting elevated NAA in urine, blood, or the brain by proton MR spectroscopy and ASPA mutation analysis. Insufficient myelination and progressive spongy degeneration of the brain's white matter characterize the disease histologically. While not all Canavan disease (CD) patients had epilepsy in their early years, seizure prevalence increased over the first decade, with all CD patients having seizures by ten. Multiple antispasmodic or antiepileptic drugs are frequently required to treat neurological symptoms such as seizures and spasticity. Canavan disease (CD) is caused by mutations in the ASPA gene (17p13.3), which codes for the aspartoacylase enzyme. Numerous mutations have been discovered, and enzymatic activity is either low or non-existent as a resul...