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Familial infantile bilateral striatal necrosis
rareThe familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
- Identifiers
- MONDO:0010080 OMIM:271930Orphanet:225154
- Causal genes
- NUP62
- Also known as
- familial bilateral striatal necrosis · familial IBSN · familial infantile striatonigral degeneration · familial infantile striatonigral necrosis · FBSN
Subtypes
| Disease | Subtypes |
|---|---|
| Striatonigral degeneration, infantile, mitochondrial |
Rare disease
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