What question did this study set out to answer?

The study aims to enhance understanding of the genetic and radiological variability in CONDSIAS disorders.

Genotypic and radiological expansion of CONDSIAS

View Full Paper

Ask AI

Bookmark

Authors

Case report reveals genetic mutation and varied symptoms in childhood neurodegeneration, suggesting early diagnosis importance.

The study aims to enhance understanding of the genetic and radiological variability in CONDSIAS disorders.
Case report of a girl with symptoms starting at 2 years of age.
Molecular analysis conducted to identify mutations.
MRI scans performed to assess brain abnormalities over time.
Identified a novel homozygous mutation in the adenosine diphosphate-ribosyl serine hydrolase gene.
Initial MRI showed abnormalities in periventricular white matter and putamina.
Later scans revealed progression to severe generalized brain atrophy.

Roy et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark

View Full Paper

Ask AI

Bookmark

Authors

Case report reveals genetic mutation and varied symptoms in childhood neurodegeneration, suggesting early diagnosis importance.

The study aims to enhance understanding of the genetic and radiological variability in CONDSIAS disorders.
Case report of a girl with symptoms starting at 2 years of age.
Molecular analysis conducted to identify mutations.
MRI scans performed to assess brain abnormalities over time.
Identified a novel homozygous mutation in the adenosine diphosphate-ribosyl serine hydrolase gene.
Initial MRI showed abnormalities in periventricular white matter and putamina.
Later scans revealed progression to severe generalized brain atrophy.

Roy et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark