ライフサイエンスコーパス: spastic ataxia

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1 in POLR3A are a frequent cause of hereditary spastic ataxias, accounting for about 3% of hitherto gen

2 n patients show a combination of adult-onset spastic ataxia and a thin corpus callosum.

3 considered in the differential diagnosis of spastic ataxia and hypomyelination.

4 ests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylcer

5 ting features on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and s

6 ole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic v

7 ochondrial DNA maintenance is suspected when spastic ataxia is prominent.

8 linked to spinocerebellar ataxia type 28 and spastic ataxia-neuropathy syndrome in humans; however, t

9 eurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is caused

10 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a chil

11 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused

12 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused

13 n sacsin responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay, a degenerative di

14 d in the neurodegenerative disorder known as spastic ataxia of Charlevoix-Saguenay, and thus, we term

15 eurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay, is a node in this

16 nt with the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

17 disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additio

18 gressive external ophthalmoplegia/ptosis and spastic ataxia, or a progressive ataxic disorder.

19 the differential diagnosis of patients with spastic ataxia phenotype.

20 report seven individuals with an early-onset spastic-ataxia phenotype.

21 as significantly enriched in 1139 cases with spastic ataxia-related phenotypes as compared to unrelat

22 A total of 321 index patients with spastic ataxia selected from the SPATAX network were ana

23 either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs.

24 haracterized by adolescent-onset progressive spastic ataxia with frequent occurrence of tremor, invol

25 d MARS2 to be mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) patients

26 ular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the Old

27 has previously been implicated in a form of spastic ataxia with optic atrophy.

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