NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
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Picture of the Lim lab taken in May 2022. Left to right: Chris Lee, Benjamin Sanders, Kimberly Luttik, Dr. Janghoo Lim, Dr. Neha Gogia, Luhan Ni, Ashley Owens, Victor Olmos Principal Investigator: Janghoo Lim, PhD Location: Yale University, New Haven, CT, USA Year Founded: 2010 What disease areas do you Read More…
Written by Alexandra Putka Edited by Dr. Hannah K Shorrock Improving neuron firing regularity rescued incoordination but not muscle weakness in a SCA1 mouse model. Spinocerebellar ataxias are characterized by problems within the cerebellum, the part of your brain responsible for balance, coordination, and walking. A central question within preclinical Read More…
The nervous system is made up of two main components: the central nervous system, which consists of the brain and the spinal cord, and the peripheral nervous system, which consists of nerve cells that branch off the spinal cord and connect the central nervous system to the rest of the Read More…
Brainstem – the part that connects and acts as a communicator between our brain and our spinal cord. The brainstem itself is composed of midbrain, pons, and medulla oblangata. Even minor injuries or disruptions to this neural communication and this region can have devastating consequences. The pons is a horseshoe-shaped Read More…
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…
Written by Dr. Marija Cvetanovic Edited by Dr. Larissa Nitschke Elsaey and colleagues develop a new animal model of SCA1 using zebrafish. These SCA1-fish can help researchers learn more about what happens to neurons as disease progresses. Spinocerebellar ataxia type 1 is dominantly inherited spinocerebellar ataxia caused by the lengthening Read More…
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…
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…
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…
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…
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