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Spotlight: The Movement Analysis and Robotics Laboratory (MARlab)

March 26, 2021

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…

BDNF can reverse ataxia in SCA1 mice, even after symptom onset

March 19, 2021

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…

Four diseases, One Gene: CACNA1A

March 12, 2021

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…

Snapshot: What is the Hippocampus?

March 5, 2021

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…

Failure to repair DNA damage may be linked to SCA3

February 26, 2021

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…

Snapshot: What is Neurofilament light protein (NfL)?

February 12, 2021

Nerve cells (aka neurons) are unique cells in that they have long, and thin extensions called axons which form connections with and talk to other neurons. This particular shape of neurons determines how quickly they can get their messages to other cells. You can think of the axons in the Read More…

Clearing aggregated ataxin-2 protein as a therapeutic avenue for SCA2

February 5, 2021

Written by Dr. Vitaliy Bondar Edited by Dr. Hayley McLoughlin New research suggests that mutant ataxin-2 protein overwhelms cells in SCA2, leading to decreased autophagy and clearance of damaged proteins. Many comparisons can be made between cells and human beings. Just like humans, cells can accumulate junk and waste at Read More…

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