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Ataxia

Spotlight: The Zoghbi Lab

Principal Investigator: Dr. Huda Zoghbi Location: Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, USA Year Founded:  1988 What disease areas do you research? SCA1 Rett Syndrome MeCP2 duplication syndrome Alzheimer’s disease Parkinson’s disease Brain development What models and techniques do you use? Mouse models Human cell biology Molecular biology Read More…

Snapshot: What is Neurogenesis?

Neurons are the cells that serve as building blocks of the nervous system. The brain contains an enormous variety of neurons, and they all need to get a start somewhere. The process by which neurons are formed is called neurogenesis. When does neurogenesis happen? Nearly all neurogenesis occurs before the Read More…

Regulating ataxin-1 expression as a therapeutic avenue for SCA1

Written by Dr. Hannah Shorrock   Edited by Dr. Hayley McLoughlin Nitschke and colleagues identify a microRNA that regulates ataxin-1 levels and rescues motor deficits in a mouse model of SCA1 What if you could use systems already in place in the cell to regulate levels of toxic proteins in disease? Read More…

Identifying FDA-approved molecules to treat SCA6

Written by Dr Hannah Shorrock Edited by Dr. Larissa Nitschke Pastor and colleagues identify FDA-approved small molecules that selectively reduce the toxic polyglutamine-expanded protein in SCA6. Selectively targeting disease-causing genes without disrupting cellular functions is essential for successful therapy development. In spinocerebellar ataxia type 6 (SCA6), achieving this selectivity is Read More…

Snapshot: What is Gait Analysis in Ataxia Mouse Models?

A key role of the cerebellum is to control and fine-tune coordinated movement such as walking. Although walking is an unconscious behaviour, it is actually very complex and requires many systems to work together. The specific mannerisms and patterns of coordinated movement that make up how an individual walks are Read More…

Elongating expansions in HD and SCA1

Written by Dr. Marija Cvetanovic  Edited by Dr. Larissa Nitschke Expanded CAG repeats are the cause of Huntington’s disease (HD) and several spinocerebellar ataxias (SCAs). Longer inherited CAG expansions correlate with the earlier disease onset and worse symptoms. We know from past research that these expansions are unstable and become longer Read More…

El BDNF puede revertir la ataxia en ratones SCA1

Escrito por Anna Cook Editado por Dr. David Bushart. Publicado inicialmente en el 19 de Marzo de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. El factor neurotrófico derivado del cerebro -BDNF- puede prevenir la ataxia en ratones SCA1. Una nueva investigación muestra que el tratamiento funciona Read More…

Snapshot: What is the Morris Water Maze Test?

Spinocerebellar ataxias (SCAs) are well known for worsening motor coordination symptoms caused by the degeneration of the cerebellum. Yet, increasing reports indicate that broader changes are occurring in the brains of some SCA patients. This includes changes in the hippocampus, a brain region critical for learning and memory. One way Read More…

Snapshot: What is the balance beam test?

When you think of a balance beam, you might think of gymnastics. For humans, a balance beam is a surface where we perform jumps, flips, and other athletic feats. Whether it’s a child taking their first class, or an Olympic athlete going for gold, the balance beam requires both balance Read More…

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