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National Ataxia Foundation

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SCA6

Identificación de moléculas aprobadas por la FDA para tratar SCA6

Escrito por la Dra. Hannah Shorrock Editado por la Dra. Larissa Nitschke. Publicado inicialmente en el 7 de mayo de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. Pastor y sus colegas identifican pequeñas moléculas aprobadas por la FDA que reducen selectivamente la proteína tóxica expandida con poliglutamina Read More…

Snapshot: What is Riluzole?

Riluzole, often sold under the trade name Rilutek, is a medication used for the treatment of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease that mainly affects neurons controlling muscle movements. The drug was approved by the FDA (1995), Health Canada (1997), and the European Commission (1996). It Read More…

Spotlight: The CMRR Ataxia Imaging Team

Location: University of Minnesota, MN, USA Year Research Group Founded:  2008 What disease areas do you research? Ataxia (SCA1, SCA2, SCA3, SCA6, Friedreich Ataxia) Multiple System Atrophy – Cerebellar Ataxia Huntington’s Disease Amyotrophic Lateral Sclerosis Multiple Sclerosis Alzheimer’s disease Parkinson’s disease Traumatic Brain Injury Diabetes What models and techniques do you Read More…

Spotlight: The Kuo Lab

Principal Investigator: Dr. Sheng-Han Kuo Location: Columbia University, New York, NY, United States Year Founded:  2012 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 Tremor Essential Tremor What models and techniques do you use? Mouse models Post-mortem patient tissue Optogenetics Human physiology EEG (electroencephalogram) Neuromodulation Research Focus What is your 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…

Four diseases, One Gene: CACNA1A

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…

Spotlight: The Watt Lab

Principal Investigator: Dr. Alanna Watt Location: McGill University, Montreal, Canada Year Founded: 2011 What disease areas do you research? SCA6 ARSACS Aging Basic questions about how the cerebellum functions. What models and techniques do you use? Animal models of ataxia and aging Electrophysiology Imaging RNA sequencing Behavioural assays Research Focus Read More…

A New Use for Old Drugs

Written by Dr. Amy Smith-Dijak Edited by Logan Morrison Basic biology helps identify a new treatment for ataxia Drug design doesn’t always have to start with a blank slate. Sometimes understanding how existing drugs work can help researchers to design new ones, or even to recombine old drugs in new Read More…

Snapshot: What does dominant ataxia mean?

Ataxias can occur due to a multitude of reasons. One way a patient might acquire ataxia is from an accident or an injury – not as a result of genetics. On the other hand, a patient could also inherit a specific mutation (a genetic defect, in other words) from one Read More…

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