MediFind
Condition

Spastic Ataxia Charlevoix-Saguenay Type

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Spastic Ataxia Charlevoix-Saguenay Type?

Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).

Additional muscle problems that can occur in ARSACS include muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and difficulty swallowing (dysphagia) and speaking (dysarthria). Other features of ARSACS involve high-arched feet (pes cavus), a spine that curves to the side (scoliosis), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), urinary tract problems, intellectual disability, hearing loss, and recurrent seizures (epilepsy).

An unsteady walking style (gait) is the first symptom of ARSACS. Walking problems usually begin between the ages of 12 months and 18 months, as toddlers are learning to walk. These movement problems worsen over time, with increased spasticity and ataxia of the arms and legs. In some cases spasticity goes away, but this apparent improvement is thought to be due to the wasting away (atrophy) of nerves in the arms and legs. Most affected individuals require wheelchair assistance by the time they are in their thirties or forties.

While this condition was named after the area in which it was first seen, the Charlevoix-Saguenay region of Quebec, Canada, ARSACS has been identified in individuals worldwide.

What are the causes for Spastic Ataxia Charlevoix-Saguenay Type?

Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is primarily found in cells in the brain, skin, and muscles used for movement (skeletal muscles), but the specific function of the protein is unknown. Research suggests that sacsin plays a role in organizing proteins into bundles called intermediate filaments. Intermediate filaments provide support and strength to cells. In nerve cells (neurons), specialized intermediate filaments called neurofilaments comprise the structural framework that establishes the size and shape of nerve cell extensions called axons, which are essential for transmission of nerve impulses to other neurons and to muscle cells.

Mutations in the SACS gene cause the production of an unstable sacsin protein that does not function normally. It is unclear how the abnormal sacsin protein affects the brain and skeletal muscles but it likely impairs normal organization of intermediate filaments in cells, particularly neurofilaments, and disrupts neuron function. This decreased neuronal signaling may result in the signs and symptoms of ARSACS.

How prevalent is Spastic Ataxia Charlevoix-Saguenay Type?

The incidence of ARSACS in the Charlevoix-Saguenay region is estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, the incidence of ARSACS is unknown. About 200 individuals with ARSACS have been described in the scientific literature.

Is Spastic Ataxia Charlevoix-Saguenay Type an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Top Global Doctors

BB
Elite
Bernard Brais
Montreal, QC, CA
MS
Elite
Matthis Synofzik
Tuebingen, BW, DE
FS
Elite
Filippo M. Santorelli
Pisa, 52, IT
JM
Elite
Jean B. Mathieu
Sherbrooke, QC, CA
PG
Elite
Paola Giunti
London, ENG, GB

Latest Research

Latest Advance
Study
  • Condition: Spastic ataxia of Charlevoix-Saguenay
  • Journal: BMC neurology
  • Treatment Used: Docosahexaenoic acid
  • Number of Patients: 2
  • Published —
The study researched the use of docosahexaenoic acid for treating 2 patients with Spastic ataxia of Charlevoix-Saguenay.
Latest Advance
Study
  • Condition: Dysarthria in multisystemic ataxia
  • Journal: Journal of neurology
  • Treatment Used: Speech treatment
  • Number of Patients: 0
  • Published —
The study aimed to determine the effects of speech treatment in dysarthria in multisystemic ataxia.

Clinical Trials

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.