Pontocerebellar hypoplasia

Not to be confused with cerebellar hypoplasia.
Pontocerebellar hypoplasia
Other namesNon-syndromic pontocerebellar hypoplasia
Pontocerebellar hypoplasia is inherited in an autosomal recessive manner
SpecialtyNeurology
TreatmentUnknown

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons).[1] Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.[2]

  1. ^ Millen KJ, Gleeson JG (February 2008). "Cerebellar development and disease". Curr Opin Neurobiol. 18 (1): 12–9. doi:10.1016/j.conb.2008.05.010. PMC 2474776. PMID 18513948.
  2. ^ Cite error: The named reference GHR was invoked but never defined (see the help page).
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