Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Updates to Article Attributes
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive spastic ataxia initially only identified in the region of Charlevoix-Saguenay, in the Province of Quebec, Canada. It is due to a mutation on the SACS gene locus q12 of chromosome 13. It has been reported in other regions of the world since it was discovered, including the Netherlands 9, Brazil 7, Italy 4 and France 10.
Clinical presentation
Patients usually present with lower limb spasticity at gait initiation around 1 year-old. Gradually, patients usually develop a slurred speech with distal amyotrophy and are wheelchair-bound by age 40.
Radiographic features
Patients with autosomal recessive spastic ataxia of Charlevoix are frequently investigated with head CT and MRI.
Superior vermian atrophy is always present in patient with ARSACS 5. A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSACS 11.
Other common but less specific findings include 1-4 :
- inferior vermis atrophy
- superior spinal cord atrophy
- cerebellar hemisphere atrophy
- bulky pons with hypointense T2 stripe
- thalamic T2 hyperintensities
- corpus callosum thinning
See also
-<p><strong>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) </strong>is a rare autosomal recessive spastic ataxia initially only identified in the region of Charlevoix-Saguenay, in the Province of Quebec, Canada. It is due to a mutation on the SACS gene locus q12 of chromosome 13. It has been reported in other regions of the world since it was discovered, including the Netherlands <sup>9</sup>, Brazil <sup>7</sup>, Italy <sup>4</sup> and France <sup>10</sup>.</p><h4>Clinical presentation</h4><p>Patients usually present with lower limb spasticity at gait initiation around 1 year-old. Gradually, patients usually develop a slurred speech with distal amyotrophy and are wheelchair-bound by age 40.</p><h4>Radiographic features</h4><p>Patients with autosomal recessive spastic ataxia of Charlevoix are frequently investigated with head CT and MRI.</p><p>Superior vermian atrophy is always present in patient with ARSACS <sup>5</sup>. A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSACS <sup>11</sup>.</p><p>Other common but less specific findings include <sup>1-4</sup> :</p><ul>-<li>inferior vermis atrophy</li>-<li>superior spinal cord atrophy</li>-<li>cerebellar hemisphere atrophy</li>-<li>bulky pons with hypointense T2 stripe</li>-<li>thalamic T2 hyperintensities</li>-<li>corpus callosum thinning</li>- +<p><strong>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) </strong>is a rare autosomal recessive spastic ataxia initially only identified in the region of Charlevoix-Saguenay, in the Province of Quebec, Canada. It is due to a mutation on the SACS gene locus q12 of chromosome 13. It has been reported in other regions of the world since it was discovered, including the Netherlands <sup>9</sup>, Brazil <sup>7</sup>, Italy <sup>4</sup> and France <sup>10</sup>.</p><h4>Clinical presentation</h4><p>Patients usually present with lower limb spasticity at gait initiation around 1 year-old. Gradually, patients usually develop a slurred speech with distal amyotrophy and are wheelchair-bound by age 40.</p><h4>Radiographic features</h4><p>Patients with autosomal recessive spastic ataxia of Charlevoix are frequently investigated with head CT and MRI.</p><p>Superior vermian atrophy is always present in patient with ARSACS <sup>5</sup>. A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSACS <sup>11</sup>.</p><p>Other common but less specific findings include <sup>1-4</sup> :</p><ul>
- +<li>inferior vermis atrophy</li>
- +<li>superior spinal cord atrophy</li>
- +<li>cerebellar hemisphere atrophy</li>
- +<li>bulky pons with hypointense T2 stripe</li>
- +<li>thalamic T2 hyperintensities</li>
- +<li>corpus callosum thinning</li>
Image 2 MRI (T2) ( create )
Image 3 MRI (T2 DRIVE) ( create )
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