hereditary spastic paraplegia

(redirected from Spastic ataxia)

hereditary spastic paraplegia

Any of a group of inherited diseases of the central nervous system characterized by muscle spasticity, esp. of the lower extremities.
Synonym: Troyer syndrome
See also: paraplegia
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References in periodicals archive ?
We have described the first occurrence of SNX14 mutation in Oman and add to the list of gene defect leading to syndromic ataxia in this population, which also includes mutations in SACS gene causative of autosomal recessive spastic ataxia Charlevoix-Saguenay type (unpublished).
In time, there might be significant recovery of the peripheral nerve function but, depending on the degree of pyramidal involvement, spastic ataxia may be a permanent outcome of severe OPIDP.
Interestingly, 1 of these alleles corresponded to a previously reported CNV (27,28), which was also detected in other samples analyzed in this study together with SACS point mutations, producing autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (29, 30, 35).
Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
A spastic ataxia syndrome with prominent posterior column findings mimicking cobalamin deficiency (1) remains the archetypal and probably the most common neurologic presentation of copper deficiency.