In total, 76 patients with CA (n=28) or HSP (n=48) were included for clinical exome sequencing. The cohort was largely nonconsecutive. Patients with a visiting history from our center were selected ...
Scientists have discovered a new cause of spastic ataxia, and believe this cause is also a trigger for other mitochondrial diseases – neurological disorders that can lead to serious coordination, ...
Researchers have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: Hereditary spastic ataxia. This condition is characterized by lower-limb ...
Spastic ataxia is a group of neurodegenerative disorders that rob victims of their abilities to walk and run. Barely able to sit, patients end up bound to wheelchairs. Brain scans reveal defects in a ...
A research team from the Cell Structure and Dynamics Laboratory of the Biosystems and Integrative Sciences Institute (BioISI) of the Faculty of Sciences of the University of Lisbon (CIÊNCIAS) ...
CHAPEL HILL, NC – Scientists at the UNC School of Medicine and UNC Eshelman School of Pharmacy, in collaboration with a team from Queen Mary University of London, have illuminated the molecular events ...
Spastic cerebral palsy is a disorder that involves muscle stiffness. Symptoms and signs may include difficulty walking, trouble manipulating objects, and vision, hearing, or speech challenges.
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