ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Masayuki Sasaki, Noriko Sumitomo, Yuko Shimizu-Motohashi and 6 others
PMID 32895939WHAT IT FOUND
Two children had slowly worsening cerebellar ataxia and mild to moderate intellectual disability, without paroxysmal attacks.
Both carried new de novo ATP1A3 variants. No episodic signs were reported.
Key findings
01Two children had infantile-onset slowly progressive cerebellar ataxia and mild or moderate intellectual disability without paroxysmal episodic signs or motor fluctuation.
02Whole exome sequencing identified heterozygous de novo ATP1A3 variants in both children; the variants were not previously reported and were predicted likely pathogenic.
03Brain MRI showed pure cerebellar cortical atrophy in both children.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for SLPs
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What it does not show
Only two children were described, so the report cannot show how common this presentation is or how it behaves over years. No treatment was given or compared, so there is no evidence about therapy outcomes. The variants were predicted likely pathogenic by software and were de novo, but no functional test was done. The children were from one centre, and one had an IQ of 40 while the other had mild intellectual disability, so severity cannot be generalised.
The easy way to misread this
Do not read these two cases as proof that ATP1A3 variants cause slowly progressive ataxia in all children, or as evidence that any therapy works. There was no control group and no treatment comparison, and the variants were predicted likely pathogenic by software rather than proven by functional testing.