taxo

Taxo, also known as Taxo-Krankheit or Taxo disease, is a rare, autosomal recessive neurodegenerative disorder that affects the central nervous system. It is characterized by progressive neurological dysfunction, including intellectual disability, spasticity, ataxia, and optic atrophy. The condition typically manifests in early childhood.

The underlying cause of Taxo is mutations in the PAPSS2 gene. This gene provides instructions for making an enzyme involved in the synthesis of 3'-phosphoadenosine-5'-phosphosulfate (PAPS). PAPS is a crucial cofactor for sulfotransferase enzymes, which are responsible for transferring sulfate groups to various molecules. In Taxo disease, the deficiency in PAPS synthesis leads to impaired sulfation of proteoglycans and other important molecules in the brain, disrupting normal neuronal development and function.

Diagnosis of Taxo usually involves clinical examination, neuroimaging (such as MRI to assess brain abnormalities), and genetic testing to identify mutations in the PAPSS2 gene. There is currently no cure for Taxo disease, and treatment is primarily supportive, focusing on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and educational support. The prognosis varies, but the disease is generally progressive, leading to severe disability. Research into potential therapeutic strategies is ongoing.