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When you think of a balance beam, you might think of gymnastics. For humans, a balance beam is a surface where we perform jumps, flips, and other athletic feats. Whether it’s a child taking their first class, or an Olympic athlete going for gold, the balance beam requires both balance Read More…
Escrito por el Dr. Vitaliy Bondar Editado por el Dr. Hayley McLoughlin. Publicado inicialmente en el 5 de febrero de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. Una nueva investigación sugiere que la proteína ataxina-2 mutante abruma a las células en SCA2, lo que lleva a una Read More…
Principal Investigator: Dr. Maurizio Petrarca Location: Bambino Gesù Children Hospital, Rome, Italy Year Founded: 2000 What disease areas do you research? Friedreich’s ataxia Early-onset ataxia Non-Progressive Cerebellar Ataxia Hereditary Spastic Paraplegia Duchenne Muscular Dystrophy Charcot-Marie-Tooth disease Cerebral Palsy Adrenoleukodystrophy What models and techniques do you use? Wearable Technologies Movement analysis Read More…
Il coordinare facilmente ed efficacemente movimenti come il parlare e il camminare è essenziale nello svolgimento della vita quotidiana. L’abilità di orchestrare questi movimenti con successo è generalmente chiamata “coordinazione mootoria”. Anche se i pazienti di SCA in genere sono in grado di iniziare movimenti coorporei, la loro abilitá di Read More…
Written by Anna Cook Edited by Dr. David Bushart Brain-derived neurotrophic factor can prevent ataxia in SCA1 mice. New research shows that the treatment works even if it’s started after mice develop signs of ataxia. SCA1 is a neurodegenerative disease caused by a mutation in the Ataxin1 gene. People with Read More…
Escrito por el Dr. Ronald Buijsen Editado por la Dra. Larissa Nitschke. Publicado inicialmente en el 28 de Enero de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. O’Callaghan y sus colegas muestran que los enfoques terapéuticos novedosos para reducir la proteína que causa la enfermedad en Read More…
Written by Dr. Judit Pérez Edited by Dr. David Bushart A new case report describes how a new mutation in the CACNA1A gene causes ataxia with seizures. Genes and their diseases Hereditary ataxias are caused by mutations in different genes that affect how different parts of the brain and spinal Read More…
How do you remember your name? Thank your hippocampus, a part of the brain that lies buried in the cerebrum and plays an important role in memory. The hippocampus looks like a seahorse when removed from the brain and hence the name (derived from Hippokampus, the Greek word for seahorse). Read More…
Written by Dr. Ambika Tewari Edited by Dr. Maria do Carmo Costa Mutations in Ataxin-3 protein prevent the normal functioning of a DNA repair enzyme leading to an accumulation of errors Cells are bombarded by thousands of DNA damaging events each day from internal and external sources. Internal sources include Read More…
Written By Dr. David Bushart Edited by Celeste Suart The RISCA study will help researchers design smarter, more efficient clinical trials by teaching us about the very early stages of SCA Ataxia research has grown significantly in recent years. Although much work still remains, we are gaining a better understanding Read More…
