What question did this study set out to answer?

The aim is to report a new case of leukodystrophy associated with a de novo variant in ELOVL1.

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

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Case report reveals a de novo pathogenic variant in ELOVL1 causing severe leukodystrophy symptoms.

The aim is to report a new case of leukodystrophy associated with a de novo variant in ELOVL1.
Clinical data systematically collected on symptoms, psychomotor development, and molecular diagnosis.
Performed brain MRI and genetic analysis for variant identification.
Patient exhibited congenital ichthyosis, progressive spastic paraparesis, and nystagmus.
MRI revealed slightly progressive white matter abnormalities and corpus callosum thinning.
Identified de novo pathogenic variant p.Ser165Phe in ELOVL1.

Vaia et al. (2026) studied this question.

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View Full Paper

Ask AI

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Authors

Case report reveals a de novo pathogenic variant in ELOVL1 causing severe leukodystrophy symptoms.

The aim is to report a new case of leukodystrophy associated with a de novo variant in ELOVL1.
Clinical data systematically collected on symptoms, psychomotor development, and molecular diagnosis.
Performed brain MRI and genetic analysis for variant identification.
Patient exhibited congenital ichthyosis, progressive spastic paraparesis, and nystagmus.
MRI revealed slightly progressive white matter abnormalities and corpus callosum thinning.
Identified de novo pathogenic variant p.Ser165Phe in ELOVL1.

Vaia et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark