Spino-Cerebellar Ataxia 3(SCA3) - Machado-Joseph Disease

Potential Therapies

There is no known cure for Ataxia and any potential cure is some years away .  But there are many exciting developments that can lead to a cure as detailed in this section.

The polyglutamine (polyQ) diseases are a group of neurodegenerative disorders caused by expanded cytosine-adenine-guanine (CAG) repeats encoding a long polyQ tract in the respective proteins. To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, X-linked 1 (SMAX1/SBMA).

As Huntington's disease(HD) is more prevalent, and in some ways more insidious than Ataxias, there has been more research and exciting discoveries and advances being made in HD models which could be pave a way for similar therapies in SCA.

Antisense Oligo Nucleotides


An experimental drug, known as an 'antisense oligonucleotide' (ASO), has proven to safely lower the levels of the toxic protein which causes Huntington's disease(HD).


This gives a great hope for patients suffering from SCA as similar approach could be adopted for SCA in future

Crispr-cas9/Gene editing


CRISPR/Cas gene editing technology offers the promise of permanently silencing or correcting the disease-causing mutations, potentially overcoming key limitations of RNA-targeting approaches. The versatile CRISPR/Cas-based strategies have the potential to become treatment options for challenging neurodegenerative diseases such as Ataxia and HD.


But this technology could take a number of years to materialize into a cure but nevertheless is an exciting development.



Repurposed drugs

Recognizing that the process of developing a completely novel drug may take decades of work, scientists are taking the route of repurposing FDA-approved drugs for another indication.

Repurposing existing FDA approved drugs will speed up the drug development and could expedite treatment by several years.


Stem Cell Therapy


The lack of curative therapies for neurodegenerative diseases has high economic impact and places huge burden on the society. The contribution of stem cells to cure neurodegenerative diseases has been unraveled and explored extensively over the past few years. Beyond substitution of the lost neurons, stem cells act as immunomodulators and neuroprotectors. A large number of preclinical and a small number of clinical studies have shown beneficial outcomes in this context.


There is relatively more evidence for stem cell therapy in Parkinson's disease and amyotrophic lateral sclerosis compared to Huntington's disease. So a breakthrough in SCA could be a number of years away but closely following advances in HD could lead to a similar approach in SCA.



Useful Links

Genetic,Neurological and Rare disease organisations

Genetic Alliance UK

       is a national charity which aims to improve the lives of parents and families affected by all different types of genetic conditions. They have a vast selection of information resources for both children and adults affected by a genetic disorder.

The Neurological Alliance

      are the only collective voice for 80 organisations working together to make life better for millions of people in England with a neurological condition (of which Ataxia UK are also a member).

The Brain Charity

The Brain Charity offers national support for all neurological conditions.  The website offers practical help and          information, A-Z of conditions, a newsletter, Q&A forum, news and events:

Rare Disease UK (RDUK)

       is the national campaign for people with rare diseases and all who support them.

   RDUK provides a united voice for the rare disease community by capturing the experiences of patients and families. We work with our supporters to raise the profile of rare diseases across the UK. We seek to bring about lasting change offering better health and quality of life for individuals and families affected by rare diseases.

Genetic Disorders UK

Genetic Disorders UK is a registered charity with a vision to improve the lives of individuals and families affected by genetic disorders.Our mission is to be the leading source of information and support for both those affected by a genetic disorder, and the charities and patient groups that support them, by bringing together everyone’s combined experience in a place it can be shared.

Genetic Disorders UK is run by a small team that also organises the annual Jeans for Genes Day fundraising event.


Findacure is a charity that is bringing the rare disease community together. We know that when you combine everybody’s expertise and passion, the rare community becomes an unstoppable force. We encourage patients and parents to grow their own patient communities and to share their experiences with others hoping to do the same. By saving them from reinventing the wheel, we are transforming the lives of rare disease patients together, and we will not stop until they all have the support and treatments they deserve.

Coordination of Rare Diseases at Sanford (CoRDS)

Based at Sanford Research, a not-for-profit research institution, CoRDS is a centralized international patient registry for all rare diseases. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access. We work with patient advocacy groups, individuals, and researchers to coordinate the advancement of research into the 7,000 rare diseases.

Enroll in CoRDS

Join CoRDS. Help Accelerate Research.

If you or a family member have been diagnosed with a rare disease, an uncommon disease with unknown prevalence, have not yet received a diagnosis, or if you or a family member is an unaffected carrier of a rare disease, you are invited to participate in the CoRDS registry. Enrollment is simple and was designed to be brief.

You can enrol by clicking the link below, or alternatively visit thier website for more information.




We strongly recommend all patients to register and support following leading charities helping people affected by Ataxia. 




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