Di Rauso

Dec 3, 2024 | bmccancer.biomedcentral.com | Maria Chiara |Di Rauso |Paolo Giorgi |Reggio Emilia

This systematic review adhered to the guidelines outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. We followed the PRISMA 2020 Checklist, as reported in Table S1. Notably, no review protocol was registered before the start of the review process. A systematic search was independently performed by M.B. and J. R. for all articles published until December 2023, on “MEDLINE, EMBASE, CINAHL, SCOPUS, WEB OF SCIENCE”.

Sep 18, 2024 | link.springer.com | Di Rauso |Di Fonzo |Reggio Emilia |AUSL-IRCCS Reggio Emilia

AbstractAtaxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date psychiatric symptoms have never been reported in AOA2.