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Written by Anna Cook Edited by Dr. David Bushart Brain-derived neurotrophic factor can prevent ataxia in SCA1 mice. New research shows that the treatment works even if it’s started after mice develop signs of ataxia. SCA1 is a neurodegenerative disease caused by a mutation in the Ataxin1 gene. People with Read More…
Escrito por el Dr. Ronald Buijsen Editado por la Dra. Larissa Nitschke. Publicado inicialmente en el 28 de Enero de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. O’Callaghan y sus colegas muestran que los enfoques terapéuticos novedosos para reducir la proteína que causa la enfermedad en Read More…
Written by Dr. Judit Pérez Edited by Dr. David Bushart A new case report describes how a new mutation in the CACNA1A gene causes ataxia with seizures. Genes and their diseases Hereditary ataxias are caused by mutations in different genes that affect how different parts of the brain and spinal Read More…
Written by Dr. Ambika Tewari Edited by Dr. Maria do Carmo Costa Mutations in Ataxin-3 protein prevent the normal functioning of a DNA repair enzyme leading to an accumulation of errors Cells are bombarded by thousands of DNA damaging events each day from internal and external sources. Internal sources include Read More…
Written By Dr. David Bushart Edited by Celeste Suart The RISCA study will help researchers design smarter, more efficient clinical trials by teaching us about the very early stages of SCA Ataxia research has grown significantly in recent years. Although much work still remains, we are gaining a better understanding Read More…
Written by Dr. Vitaliy Bondar Edited by Dr. Hayley McLoughlin New research suggests that mutant ataxin-2 protein overwhelms cells in SCA2, leading to decreased autophagy and clearance of damaged proteins. Many comparisons can be made between cells and human beings. Just like humans, cells can accumulate junk and waste at Read More…
Written by Dr. Ronald Buijsen Edited by Dr. Larissa Nitschke O’Callaghan and colleagues show that novel therapeutic approaches to reduce the disease-causing protein in SCA1 do not increase the risk of developing cancer or Alzheimer’s disease in SCA1 mice. People affected with Spinocerebellar Ataxia type 1 or SCA1 carry an Read More…
Written by Dr. Ambika Tewari Edited by Dr. Sriram Jayabal Targeting phosphatases in the cerebellum can correct miscommunication in multiple models of ataxia. The cerebellum is essential for motor coordination and consists of the coordinated activity of different types of cells. Purkinje cells are one of the most fascinating cell Read More…
Written by Dr. Sriram Jayabal Edited by Dr. Ray Truant A potential new pathway for SCA17: gene therapy that in mice restores a critical protein deficit protects brain cells from death in SCA17. Neurodegenerative ataxias are a group of brain disorders that progressively affect one’s ability to make fine coordinated Read More…
Written by Stephanie Coffin Edited by Dr. Brenda Toscano Ataxin-1 may not be the only protein important in driving neurodegeneration in SCA1 Why does a protein that cause disease only cause toxicity in specific regions of the brain, despite being in all cells of the body? This is the question Read More…
