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#Ataxia

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David O'Brien

I did something amazing today.

I rode a #bike.

I know, billions of people ride a bike every day. I used to, too. But about 25 years ago, I slipped a disc and was told to stop.

Since then, I've been diagnosed with #ataxia, which affects my balance and co-ordination Those are both pretty indispensable when riding a bike.

So I thought my cycling days were over, much like my mountaineering, football and running days.

Public
Javier Díaz-Nido

Therapeutic Strategies for Spinocerebellar Ataxia Type 1 (SCA1)

#Neuroscience #Brain #NeurologicalDiseases #NeurodegenerativeDiseases #Neurodegeneration #Cerebellum #Ataxia #SpinocerebellarAtaxia #SCA1 #HereditaryAtaxias #Ataxias #NeurogeneticDiseases #Neurogenetics
#Genetics #HereditaryDiseases #GeneticDiseases
#Biomedicine #Health

mdpi.com/2218-273X/13/5/788

MDPITherapeutic Strategies for Spinocerebellar Ataxia Type 1Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two individuals per 100,000. The disease is caused by an extended CAG repeat in exon 8 of the ATXN1 gene and is characterized mostly by a profound loss of cerebellar Purkinje cells, leading to disturbances in coordination, balance, and gait. At present, no curative treatment is available for SCA1. However, increasing knowledge on the cellular and molecular mechanisms of SCA1 has led the way towards several therapeutic strategies that can potentially slow disease progression. SCA1 therapeutics can be classified as genetic, pharmacological, and cell replacement therapies. These different therapeutic strategies target either the (mutant) ATXN1 RNA or the ataxin-1 protein, pathways that play an important role in downstream SCA1 disease mechanisms or which help restore cells that are lost due to SCA1 pathology. In this review, we will provide a summary of the different therapeutic strategies that are currently being investigated for SCA1.
Public
Javier Díaz-Nido

La vatiquinona ralentiza la progresión de la Ataxia de Friedreich después de 1,5 años.
Sin embargo, en la población de análisis primario, el ensayo no logró su objetivo principal de un cambio general estadísticamente significativo en la progresión de la enfermedad.

#Neurociencia #Cerebro #Neurología #EnfermedadesNeurológicas #EnfermedadesNeurodegenerativas #Neurodegeneración #Ataxia #Cerebelo #EnfermedadesGenéticas #EnfermedadesRaras #Neurogenética #Genética #Biomedicina
#AtaxiadeFriedreich #Vatiquinona #Neuroinflamación #EnsayoClínico #Salud

fedaes.org/la-vatiquinona-rale

Federación de Ataxias de EspañaLa vatiquinona ralentiza la progresión de la FA en un 75 % tras 1,5 años - Federación de Ataxias de EspañaTras 1,5 años de tratamiento, se descubrió que la vatiquinona (PTC-743) ralentiza la progresión de la FA ataxia de Friedreich en un 75 % en...
Public
Javier Díaz-Nido

Vatiquinone found to slow Friedreich's Ataxia progression by 75% after 1.5 years

But oral therapy fails to meet primary goal in Phase 2/3 trial

#Neuroscience #Brain #NeurologicalDiseases #NeurodegenerativeDiseases #Neurodegeneration #Cerebellum #Ataxia #FriedreichAtaxia #HereditaryAtaxias #Ataxias #NeurogeneticDiseases #Neurogenetics
#Genetics #HereditaryDiseases #GeneticDiseases
#ClinicalTrial
#Vatiquinone #Neuroinflammation
#Biomedicine #Health

friedreichsataxianews.com/news

Friedreich's Ataxia NewsVatiquinone seen to slow FA progression by 75% after 1.5 years |...The oral therapy vatiquinone was found to slow disease progression in Friedreich's ataxia patients by 75% after nearly 18 months in trial.
Public
Javier Díaz-Nido

The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias

#Neuroscience #Brain #NeurologicalDiseases #NeurodegenerativeDiseases #Neurodegeneration #Cerebellum #Ataxia #FriedreichAtaxia #HereditaryAtaxias #Ataxias #NeurogeneticDiseases #Neurogenetics #CerebellarStimulation #DeepBrainStimulation #TranscranealDirectStimulation #Neurotechnology #Biomedicine

mdpi.com/2073-4409/12/8/1193

MDPIThe Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary AtaxiasThe degenerative ataxias comprise a heterogeneous group of inherited and acquired disorders that are characterized by a progressive cerebellar syndrome, frequently in combination with one or more extracerebellar signs. Specific disease-modifying interventions are currently not available for many of these rare conditions, which underscores the necessity of finding effective symptomatic therapies. During the past five to ten years, an increasing number of randomized controlled trials have been conducted examining the potential of different non-invasive brain stimulation techniques to induce symptomatic improvement. In addition, a few smaller studies have explored deep brain stimulation (DBS) of the dentate nucleus as an invasive means to directly modulate cerebellar output, thereby aiming to alleviate ataxia severity. In this paper, we comprehensively review the clinical and neurophysiological effects of transcranial direct current stimulation (tDCS), repetitive transcranial magnetic stimulation (rTMS), and dentate nucleus DBS in patients with hereditary ataxias, as well as the presumed underlying mechanisms at the cellular and network level and perspectives for future research.
Public
Javier Díaz-Nido

Movimientos descoordinados y pérdida de equilibrio: ¿síntoma o enfermedad?

Ataxia es una palabra de origen griego que significa “sin orden” o “incoordinación” de movimientos.

La mayoría de las ataxias son progresivas pudiendo comenzar como una ligera sensación de falta de equilibrio hasta ser altamente invalidantes.

#Neurociencia #Cerebro #Neurología #EnfermedadesNeurológicas #EnfermedadesNeurodegenerativas #Neurodegeneración #Ataxia #Cerebelo #EnfermedadesGenéticas #EnfermedadesRaras #Neurogenética #Genética #Biomedicina

lavoz.com.ar/espacio-de-marca/

La Voz del InteriorMovimientos descoordinados y pérdida de equilibrio: ¿síntoma o enfermedad?By Sanatorio Allende
Public
Javier Díaz-Nido

Two Types of Neurons in Cerebellum Influence Motor and Social Behaviors
Researchers reveal distinct roles for two types of neurons in the cerebellum. The study offers compelling in vivo evidence that a specific group of excitatory glutamatergic neurons plays a key role in acquiring motor and sensory/emotional behaviors.
Additionally, the study demonstrates that neurons located in different regions of the cerebellum differently contribute to motor and non-motor behaviors during development and adulthood.

#Biomedicine #Neuroscience #Brain #Neurology #Cerebellum #MotorCoordination #Ataxia #SocialBehavior

neurosciencenews.com/cerebellu

Neuroscience NewsTwo Types of Neurons in Cerebellum Influence Motor and Social Behaviors - Neuroscience NewsNeuroscience News provides research news for neuroscience, neurology, psychology, AI, brain science, mental health, robotics and cognitive sciences.
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