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References

Where does the content on the ataxia.info portal come from?

The ataxia.info portal uses reliable sources such as PubMed, OMIM, and other academic references. Information from websites specializing in ataxias is also used.
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Technical articles, websites, videos and other references on ataxias

Content curated by Márcio Galvão. Use the filters to find content of interest. Paginated table.

RefID
Ataxias Relacionadas
Título
URL
Autor
Data da publicação
Fonte
0201
Diversas
Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial
https://pubmed.ncbi.nlm.nih.gov/28365204/
Cornelia Schatton et al
06/2017
PMC (PubMed Central)®
0202
Diversas
Video game-based coordinative training improves ataxia in children with degenerative ataxia
https://pubmed.ncbi.nlm.nih.gov/23115212/
Winfried Ilg et al
11/2012
PMC (PubMed Central)®
0203
Diversas
Myelinating Glia: Potential Therapeutic Targets in Polyglutamine Spinocerebellar Ataxias
https://pmc.ncbi.nlm.nih.gov/articles/PMC9953858/
Alexandra F Putka, Juan P Mato, Hayley S McLoughlin
02/2023
PMC (PubMed Central)®
0204
Diversas
Management of the ataxias towards best clinical practice Third edition
https://www.ataxia.org.uk/wp-content/uploads/2020/11/Ataxia_UK_Medical_Guidelines._Third_Edition._v3m_Dec_2016_-_updated_Sep_2019.pdf
AtaxiaUK
2016
AtaxiaUK
0205
Ataxia espinocerebelar tipo 17 (SCA17)
Spinocerebellar Ataxia Type 17
https://www.ncbi.nlm.nih.gov/books/NBK1438/
Yasuko Toyoshima et al
Last Update: 07/2022
GeneReviews®
0206
Ataxia espinocerebelar tipo 17 (SCA17)
Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report
https://pmc.ncbi.nlm.nih.gov/articles/PMC3475097/
Troels Tolstrup Nielsen et al
08/2012
PMC (PubMed Central)®
0207
Ataxia espinocerebelar tipo 17 (SCA17)
Discovery of a new molecular pathway in spinocerebellar ataxia 17
https://www.ataxia.org/scasourceposts/sca17-inpp5a/
Sriram Jayabal, Ray Truant
2020
NAF (National Ataxia Foundation)
0208
Ataxia espinocerebelar tipo 17 (SCA17)
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
https://www.nature.com/articles/5201018#
C H Zühlke et al
07/2003
Nature
0209
Ataxia espinocerebelar tipo 17 (SCA17)
SCA 17: Ataxia + Intellectual Deterioration
https://neuromuscular.wustl.edu/ataxia/domatax.html#ataxintell
Alan Pestronk, MD
ND
NEUROMUSCULAR DISEASE CENTER
0210
Ataxia espinocerebelar tipo 17 (SCA17)
Molecular Mechanisms and Therapeutics for SCA17
https://pmc.ncbi.nlm.nih.gov/articles/PMC6985407/
Qiong Liu et al
07/2019
PMC (PubMed Central)®
0211
Ataxia espinocerebelar tipo 17 (SCA17)
# 607136 - SPINOCEREBELLAR ATAXIA 17; SCA17
https://www.omim.org/entry/607136
Cassandra L. Kniffin, contributor alopez
Last Update: 06/2022
OMIM® - Online Mendelian Inheritance in Man
0212
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
https://pmc.ncbi.nlm.nih.gov/articles/PMC6709527/
Andrea Cortese et al
03/2019
PMC (PubMed Central)®
0213
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
RFC1 CANVAS / Spectrum Disorder
https://www.ncbi.nlm.nih.gov/books/NBK564656/
Andrea Cortese et al
11/2020
GeneReviews®
0214
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Brain Structural Signature of RFC1-Related Disorder
https://pubmed.ncbi.nlm.nih.gov/34241918/
Paula Camila A A P Matos et al
11/2021
PMC (PubMed Central)®
0215
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias
https://pubmed.ncbi.nlm.nih.gov/38291837/
Camila C Lobo et al
01/2024
PMC (PubMed Central)®
0216
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Hypothalamic atrophy in CANVAS/RFC1
https://pubmed.ncbi.nlm.nih.gov/40526300/
Verena Miranda Souza et al
06/2026
PMC (PubMed Central)®
0217
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures
https://pmc.ncbi.nlm.nih.gov/articles/PMC10563062/
Mohammad Hossein Abdi et al
09/2023
PMC (PubMed Central)®
0218
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons
https://pmc.ncbi.nlm.nih.gov/articles/PMC10760133/
Connor J Maltby et al
12/2023
PMC (PubMed Central)®
0219
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome
https://pubmed.ncbi.nlm.nih.gov/25070514/
Teddy Y Wu et al
10/2014
PMC (PubMed Central)®
0220
CANVAS (ataxia cerebelar, neuropatia e síndrome de arreflexia vestibular)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights
https://journals.lww.com/co-neurology/fulltext/2021/08000/cerebellar_ataxia%2C_neuropathy%2C_vestibular.13.aspx
Sullivan, Roisin et at
2021
Current Opinion in Neurology (Wolters Kluwer)
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BEWARE OF FAKE NEWS AND PSEUDOSCIENCE

Pseudoscience is based on beliefs, practices, or theories that present themselves as scientific but don't conform to valid scientific methods . It's important for those with ataxia (or any other disease!) to stay well-informed and grounded in reality, always validating the information they read on social media without blindly believing fake news about miraculous treatments (and often paid ones—unfortunately, there are unscrupulous individuals who take advantage of the desperation and lack of knowledge of patients with serious illnesses to sell products and services not yet approved by regulatory agencies, or to charge a high price for still-experimental therapies).

EVIDENCE-BASED MEDICINE

When you receive information about a new medication or treatment for ataxia, talk to your neurologist to verify the information, and check if there is any registration of the study on clinicaltrials.gov.

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