Progressive cerebello-cerebral atrophy

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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://www.orphadata.org. Data version June 2024

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Progressive cerebello-cerebral atrophy?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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