Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Abstract
Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and...
Paper Details
Title
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Published Date
Jul 12, 2011
Volume
6
Issue
1
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