Miryam Carecchio

My main field of interest are rare movement disorders with a genetic basis, gene discovery, deep phenotyping of ultra-rare diseases as well as metabolic disease with central nervous system involvement. As a clinician, I have a special expertise in pediatric movement disorders, especially dystonia, and I contributed to the discovery of relevant new genes in this field being part of international research networks. In recent years I have also developed a specific interest for Primary Familial Brain Calcification, a genetic condition the basis of which are still largely unknown. My team and I are currently following one of the largest European cohort of patients providing deep phenotyping of affected subjects including imaging, neuropsychology and molecular characterization.

Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. Mov Disord 2013;28:787-94

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am J Hum Genet. 2016;98:763-71

Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. Parkinsonism Relat Disord. 2017;41:37-43

Ramos EM, Carecchio M*, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018; 26(10):1462-1477

Carecchio M, Invernizzi F., Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-centre cohort study. Mov Disord 2019; 34(10):1516-1527

Danielsson A, Carecchio M, Cif L, Koy A, Lin JP, Solders G, Romito L, Lohmann K, Garavaglia B, Reale C, Zorzi G, Nardocci N, Coubes P, Gonzalez V, Roubertie A, Collod-Beroud G, Lind G, Tedroff K. Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. J Clin Med. 2019;8(12)

Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, Morrison PJ, Wood NW, Garavaglia B, Houlden H. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. Neurol Genet. 2020 Feb 20;6(2):e399

Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Ann Neurol. 2021;89(3):485-497

Lenzini L, Carecchio M, Iori E, Legati A, Lamantea E, Avogaro A, Vitturi N. A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome. Mol Genet Metab Rep. 2021;30:100830

Collaborator (Padua University; local PI: Prof A. Antonini) of the Horizon 2020 project “PD-Pal – Palliative care in Parkinson’s disease (Call: Horizon 2020-SC1-BHC-2018-2020: PI: Prof. B. Bloem, Stichting Katholieke Universiteit (RADBOUDUMC), Nijmegen, The Netherlands) from 01-01-2020

Local PI (responsabile di Unità Operativa; Azienda Ospedaliera-Università Padova) of the Project “Motor, cognitive and imaging characterization of Progressive Supranuclear Palsy phenotypes: a longitudinal prospective study looking for biomarkers" Ricerca Finalizzata 2019 - Giovani Ricercatori (Project code: GR-2019-12370133)

Collaborator of the project “COVID19-CNS: Understanding neurotropism and long-term brain damage from COVID-19” (Grant Fondazione Cariparo)

PI progetto “Premio Segala” 2021 (Uni- and Bi-Directional Microbiota-Gut-Brain Axis Communication in Parkinson’s Disease)