Registration for a live webinar on 'Neuroleptic malignant syndrome' is now open.
See webinar detailsWe noted you are experiencing viewing problems
-
Check with your IT department that JWPlatform, JWPlayer and Amazon AWS & CloudFront are not being blocked by your network. The relevant domains are *.jwplatform.com, *.jwpsrv.com, *.jwpcdn.com, jwpltx.com, jwpsrv.a.ssl.fastly.net, *.amazonaws.com and *.cloudfront.net. The relevant ports are 80 and 443.
-
Check the following talk links to see which ones work correctly:
Auto Mode
HTTP Progressive Download Send us your results from the above test links at access@hstalks.com and we will contact you with further advice on troubleshooting your viewing problems. -
No luck yet? More tips for troubleshooting viewing issues
-
Contact HST Support access@hstalks.com
-
Please review our troubleshooting guide for tips and advice on resolving your viewing problems.
-
For additional help, please don't hesitate to contact HST support access@hstalks.com
We hope you have enjoyed this limited-length demo
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
Printable Handouts
Navigable Slide Index
- Introduction
- Ataxia
- Inherited ataxias
- Autosomal dominant cerebellar ataxias (ADCA)
- Dominant ataxias (1893)
- Clinical based classification by Prof. Harding
- ADCA - Clinical classification
- Genetic classification (SCA1-14)
- Genetic classification (SCA15-30)
- Genetic classification (SCA31-38)
- ADCA are very rare
- ADCA by mutations
- Genetic localization of the different mutations
- CAGn- age at onset correlation
- Common clinical and genetic features (1)
- Common clinical and genetic features (2)
- Pathogenesis
- Expansion progression
- Anticipation
- Somatic instability / mosaicism
- Fragment sizing zoom-in
- CAG repeat interruptions in alleles
- Interruption/s in modulating disease pathology?
- Project overview
- SCA1 very rare disease
- SCA1 cloning results
- Onset vs. size of allele - fragment sizing
- Onset vs. size of allele - sequencing sizing (1)
- Onset vs. size of allele - sequencing sizing (2)
- Transmission – interrupted
- Conclusions for ADCA part
- Nikolaus Friedreich
- Friedreich’s ataxia: typical phenotype
- Friedreich’s ataxia: “atypical phenotypes”
- Friedreich’s ataxia: gene mapping and cloning
- Frataxin protein function
- GAA size vs. age at onset
- Age at onset distribution
- EOFA, LOFA & classical presentations
- GAA size distribution
- FRDA compound heterozygotes with deletions
- FRDA cohort
- Epigenetic factors in the pathogenesis of FRDA
- Regulation & epigenetics in Friedreich's ataxia
- Epigenetic factors and Friedreich's ataxia
- HDAC inhibition in patient with Friedreich's ataxia
- Nicotinamide in patient with Friedreich's ataxia
- Phase II open label trial of nicotinamide
- FXN expression upregulated
- Nicotinamide trial conclusions
- Frataxin mRNA rises before Frataxin protein
- Frataxin mRNA rises before protein - time points
- Nicotinamide upregulates Frataxin protein
- Nicotinamide effect on methylation & acetylation
- Nicotinamide effect on different sides of (GAA)n
- Summary
- Conclusions for FRDA part
Topics Covered
- Ataxia
- Inherited ataxias
- Autosomal dominant cerebellar ataxias (ADCA)
- ADCA: Clinical classification
- Genetic classification
- ADCA by mutations
- CAGn- age at onset correlation
- Common clinical and genetic features
- Pathogenesis
- Expansion progression
- Anticipation
- Somatic instability / mosaicism
- CAG repeat interruptions in alleles
- Interruption/s in modulating disease pathology?
- SCA1 project overview
- Friedreich’s ataxia
- Frataxin protein function
- Epigenetic factors in the pathogenesis of FRDA
- HDAC inhibition in patient with Friedreich's ataxia
- Nicotinamide in patient with Friedreich's ataxia
- Phase II open label trial of nicotinamide
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Giunti, P. (2014, August 5). The inherited ataxias [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 13, 2024, from https://doi.org/10.69645/QOJY9099.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Paola Giunti has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Neuroscience
Transcript
Please wait while the transcript is being prepared...
0:00
I'm Paola Giunti, and I'm
the head of the Ataxia Center
at UCLH at Queen's Square, London.
And today, I'm going to talk
about the Inherited Ataxias.
0:17
First of all, I would like to
talk about what ataxia means.
So ataxia is a Greek word
and "a" stands for absence
and "taxia" stands for coordination.
So basically, ataxia is lack of
order and lack of coordination.
The main feature is
the loss of balance
that produces unsteadiness
and wide-based
gate with swaying and risk of falls.
Limb movements are also
involved in this doses process.
And they can become
irregular, fragmented,
and there is evidence of tremor.
The eye movement are interrupted.
There Is what we call nystagmus
and the fixation may be unstable.
So that creates double
vision for the patient.
The speech becomes slurred and
the speed and volume is altered.
1:20
Inherited ataxias can be congenital,
episodic, or progressive.
And the inheritance may be autosomal
dominant, recessive, or x-linked.
Also we have a
different inheridities
mitochondrial in this disorder.