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National Ataxia Foundation

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SCA1

Spotlight: The Shakkottai Laboratory

Principal Investigator: Vikram Shakkottai, MD, PhD Location: UT Southwestern Medical Center, Dallas, TX, USA Year Founded: 2010 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 SCA7 What models and techniques do you use? Mouse Models Microscopy Patch-clamp electrophysiology In vivo electrophysiology Next-generation sequencing approaches (RNA-seq) Research Focus What is your Read More…

Measuring neurodegeneration in spinocerebellar ataxias

Written by Dr Hannah K Shorrock Edited by Dr. Maria do Carmo Costa Neurofilament light chain predicts cerebellar atrophy across multiple types of spinocerebellar ataxia A team led by Alexandra Durr at the Paris Brain Institute identified that the levels of neurofilament light chain (NfL) protein are higher in SCA1, Read More…

Snapshot: What is N-acetylcysteine?

What is N-acetylcysteine used for? Cysteine is an amino acid that is used as a building block in our bodies to make proteins. We consume cysteine in our diets through protein-rich foods, like beef or lentils. N-acetylcysteine is a chemical derivative of cysteine. This means which means that N-acetylcysteine contains Read More…

“Expanding” the therapeutic promise for SCA1

Written by Dr. Judit M Perez Ortiz Edited by Dr. Maria do Carmo Costa A druggable target in Spinocerebellar Ataxia type 1 (SCA1) shows promise in treating cerebellar and non-cerebellar aspects of disease. Spinocerebellar Ataxia type 1 (SCA1) is a neurodegenerative disease that typically starts with coordination difficulties (ataxia) in 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 Cvetanovic Lab

Principal Investigator: Dr. Marija Cvetanovic Location: University of Minnesota, Minneapolis, USA Year Founded:  2012 What disease areas do you research? SCA1 What models and techniques do you use? Mouse models Human stem cells Microscopy RNA Sequencing Research Focus What is your research about? The human brain is made up of many different 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…

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