Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

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). We report molecular genetic findings in 12 Italian patients with clinical and MRI findings compatible wi...

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Veröffentlicht in:	Neurology 2010-10, Vol.75 (16), p.1459-1464
Hauptverfasser:	CASSANDRINI, D, BIANCHERI, R, EMMA, F, MEZZANO, P, POLITI, M. R, LAVERDA, A. M, ZARA, F, PAVONE, L, SIMONATI, A, LEUZZI, V, SANTORELLI, F. M, BERTINI, E, TESSA, A, DI ROCCO, M, DI CAPUA, M, BRUNO, C, DENORA, P. S, SARTORI, S, ROSSI, A, NOZZA, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biological and medical sciences Brain Diseases - genetics Brain Diseases - pathology Cerebellum - pathology Child Child, Preschool Cohort Studies Endoribonucleases - classification Endoribonucleases - genetics Family Health Female Humans Infant Infant, Newborn Italy Magnetic Resonance Imaging - methods Male Medical sciences Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation Neurology Pons - pathology Retrospective Studies
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