Nature

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

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 ...
Nature

Autosomal Recessive Spastic Ataxia and Sacsin Research

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder primarily caused by mutations in the SACS gene, which encodes the multifunctional protein sacsin.
Science Daily

Genetic discovery in Montreal for a rare disease in Newfoundland

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 ...
EurekAlert!

Researchers from University of Lisbon secure international funding to study rare neurological diseases

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) ...
Discover Magazine

Research on Quebec's Rare Brain Disease Could Help Unravel the Common Ones

Artist's rendering of a mitochondrian, the energy-producing cellular structure affected by ARSACS Scientists have pinpointed the cause of a rare, fatal neurodegenerative disorder called ARSACS, or ...
Science Daily

Scientists reveal role of key brain protein in childhood movement disorder

Scientists at the UNC School of Medicineand UNC Eshelman School of Pharmacy, in collaboration with a team from Queen Mary University of London, have illuminated the molecular events underlying an ...