Progressive cerebello-cerebral atrophy

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Progressive cerebello-cerebral atrophy

Synonyms: PCCA

A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay profound mental retardation progressive microcephaly progressive spasticity evolving into spastic quadriplegia with joint contractures generalized seizures and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter but no pontine involvement.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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