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1 y reported in a large family presenting with spastic ataxia.
2 in POLR3A are a frequent cause of hereditary spastic ataxias, accounting for about 3% of hitherto gen
3 n patients show a combination of adult-onset spastic ataxia and a thin corpus callosum.
4  considered in the differential diagnosis of spastic ataxia and hypomyelination.
5 ests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylcer
6 ting features on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and s
7 a confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset,
8 ole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic v
9 ochondrial DNA maintenance is suspected when spastic ataxia is prominent.
10 linked to spinocerebellar ataxia type 28 and spastic ataxia-neuropathy syndrome in humans; however, t
11 eurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is caused
12                          Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a chil
13                          Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused
14                          Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused
15                          Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a fatal brain d
16 n sacsin responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay, a degenerative di
17 d in the neurodegenerative disorder known as spastic ataxia of Charlevoix-Saguenay, and thus, we term
18 but no change in others (autosomal recessive spastic ataxia of Charlevoix-Saguenay, COQ8A-ataxia).
19 eurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay, is a node in this
20 nt with the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
21 in three, with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA4
22 tidomain protein, causes autosomal recessive spastic ataxia of the Charlevoix-Saguenay, one of the mo
23 disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additio
24 gressive external ophthalmoplegia/ptosis and spastic ataxia, or a progressive ataxic disorder.
25  the differential diagnosis of patients with spastic ataxia phenotype.
26 report seven individuals with an early-onset spastic-ataxia phenotype.
27 as significantly enriched in 1139 cases with spastic ataxia-related phenotypes as compared to unrelat
28           A total of 321 index patients with spastic ataxia selected from the SPATAX network were ana
29 G3L2 mutations result in the rare and severe spastic ataxia type 5 (SPAX5).
30  either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs.
31 haracterized by adolescent-onset progressive spastic ataxia with frequent occurrence of tremor, invol
32 d MARS2 to be mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) patients
33 ular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the Old
34  has previously been implicated in a form of spastic ataxia with optic atrophy.