Article
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Neurology - 19 Oct 2010
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora P S, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi M R, Laverda A M, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli F M, Bertini E
Abstract excerpt
BACKGROUND: Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with pontocerebellar hypoplasia 2 (PCH2) and pontocerebellar hypoplasia 4 (PCH4). OBJECTIVE: We report molecular genetic findings in 12 Italian patients with clinical and MRI findings compatible with PCH2 and PCH4. METHODS: We retrospectively selected a cohort of 12 children from 9 Italian...
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