Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism(251 views) De Rosa A, Pellegrino T, Pappata S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. Electronic address: anna.derosa1@unina.it., Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy., Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Department of Neurophysiology, San Gennaro Hospital, Naples, Italy., Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy., Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy; Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.,
References: Bonifati, V., Genetics of Parkinson's disease - state of the art, 2013 (2014) Park. Relat. Disord., 20, pp. S23-S2
Krebs, C.E., Karkheiran, S., Powell, J.C., Cao, M., Makarov, V., Darvish, H., Di Paolo, G., Paisan-Ruiz, C., The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures (2013) Hum. Mutat., 34, pp. 1200-1207
Quadri, M., Fang, M., Picillo, M., Olgiati, S., Breedveld, G.J., Graafland, J., Wu, B., Bonifati, V., Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (2013) Hum. Mutat., 34, pp. 1208-1215
Olgiati, S., De Rosa, A., Quadri, M., Criscuolo, C., Breedveld, G.J., Picillo, M., Pappatà, S., Bonifati, V., PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family (2014) Neurogenetics, 15, pp. 183-188
Chaudhuri, K.R., Martinez-Martin, P., Schapira, A.H., Stocchi, F., Sethi, K., Odin, P., Brown, R.G., Olanow, C.W., An international multicentre pilot study of the first comprehensive self-completed nonmotor symptoms questionnaire for Parkinson's disease: the NMSQuest study (2006) Mov. Disord., 21, pp. 916-923
Boeve, B., Molano, J., Ferman, T., Screening for REM sleep behavior disorder in patients with cognitive impairment and/or parkinsonism: Updated validation data on the Mayo Sleep Questionnaire (2011) Sleep. Med., 12, pp. 445-453
Visser, M., Marinus, J., Stiggelbout, A.M., Van Hilten, J.J., Assessment of autonomic dysfunction in Parkinson's disease: the SCOPA-AUT (2004) Mov. Disord., 19, pp. 1306-1312
De Rosa, A., Pappatà, S., Pellegrino, T., De Leva, M.F., Maddaluno, G., Fiumara, G., Carotenuto, R., Cuocolo, A., Reduced cardiac 123I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease (2013) Eur. J. Nucl. Med. Mol. Imaging, 40, pp. 1914-1921
Santoro, L., Breedveld, G.J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Francesca, P., Bonifati, V., Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (2011) Neurogenetics, 12, pp. 33-39
Quattrone, A., Bagnato, A., Annesi, G., Novellino, F., Morgante, L., Savettieri, G., Zappia, M., Condino, F., Myocardial 123Metaiodobenzylguanidine Uptake in Genetic Parkinson's Disease (2008) Mov. Disord., 23, pp. 21-27
Kanai, K., Asahina, M., Arai, K., Tomiyama, H., Kuwabara, Y., Uchiyama, T., Funayama, M., Hattori, T., Preserved cardiac (123)I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient (2009) Mov. Disord., 15 (24), pp. 1403-1404
Da, D., Smith, A.C., Humphrey, P., Schwartzentruber, J., Beaulieu, C.L., FORGE Canada, Consortium, Bulman, D.E., Boycott, K.M., Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology (2015) Neurobiol. Aging, 36, pp. 1222-1225
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism