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Recessive Spastic Ataxias

Spastic ataxias are ataxias that have spasticity (muscle stiffness) in addition to ataxia. Some types of spastic ataxias are dominant and some are recessive. The recessive forms are described below. The acronym SPAX is used to name some of these ataxias (SPastic AtaXia).

Autosomic recessive spastic ataxia of Chalevois-Saguenay (ARSACS)
ARSACS, which usually manifests in childhood, occurs in individuals born in Quebec Province in Canada and rarely in patients of Japanese descent. ARSACS is characterized by ataxia, muscle wasting and neuropathy, with weakness in the arms and legs, eye movement abnormalities, and yellow streaks in the retina of the eyes. Genetic testing is available for a limited number of mutations seen in French Canadian families.

This type of spastic ataxia has been described in a single family from Morocco. Symptoms began at age 14 and included difficulty speaking, difficulty walking, and spasticity (stiffness) in the legs and arms. There are three other families in the world that may also have this type of spastic ataxia. The gene that causes this type of ataxia has not yet been discovered.

This type of ataxia has only been seen in individuals with French Canadian ancestry. This type of ataxia is also called ARSAL (Autosomal Recessive Spastic Ataxia with Leukoencephalopathy). Leukoencephalopathy literally means a disease of the white matter in the brain. The white matter is the part of the brain that connects brain cells to each other. Symptoms of ARSAL can begin anywhere between age 2 and 59.

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