Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism (251 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Feb; 23: 102-105.
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Paper type: Journal Article,
Impact factor: 4.484, 5-year impact factor: 4.38
Url: https://www2.scopus.com/inward/record.uri?eid=2-s2.0-84951807626&partnerID=40&md5=b204be5b924e9302c2ca2637c2ca86aa
Keywords: (123)i-Metaiodobenzylguanidine Myocardial Scintigraphy, Non-Motor Signs, Park20, Synj1 Gene, 123i-Metaiodobenzylguanidine Myocardial Scintigraphy,
Affiliations:
*** IBB - CNR ***
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
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Feb; 23: 102-105.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 4.484, 5-year impact factor: 4.38
Url: https://www2.scopus.com/inward/record.uri?eid=2-s2.0-84951807626&partnerID=40&md5=b204be5b924e9302c2ca2637c2ca86aa
Keywords: (123)i-Metaiodobenzylguanidine Myocardial Scintigraphy, Non-Motor Signs, Park20, Synj1 Gene, 123i-Metaiodobenzylguanidine Myocardial Scintigraphy,
Affiliations:
*** IBB - CNR ***
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
Introduction: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures. Objective: Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene. Methods: The Non-Motor Symptoms, the SCOPA-AUT, the Mayo Sleep Questionnaires and polysomnography were used to investigate non-motor signs (NMS), autonomic dysfunction and REM Behavioural Disorder (RBD). Cognitive functions were examined by an extensive battery of neuropsychological tests. In addition, motor and sensory nerve conduction studies and evoked laser potentials were performed. Cardiac sympathetic innervation was assessed in the two patients by 123I-metaiodobenzylguanidine (MIBG) scintigraphy, computing early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR). Results: Among the non-motor symptoms and autonomic signs, case 1 had cold intolerance, drooling and dysphagia, while case 2 had pain and urinary dysfunction. Both cases showed mood and behavioural disorders. RBD were not found, whereas the neuropsychological assessment revealed a progressive cognitive impairment. Neurophysiological studies revealed no abnormalities. Indexes of cardiac sympathetic innervation in the two patients did not differ from those of control subjects. Conclusions: Our findings expand the phenotypic profile of SYNJ1-related parkinsonism. Preserved cardiac sympathetic function and absence of RBD suggest that PARK20 should be explained by a pathogenic mechanism different from Lewy Body pathology, or that the latter is not as widespread as idiopathic Parkinson's disease. © 2015 Elsevier Ltd.
Introduction: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures. Objective: Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene. Methods: The Non-Motor Symptoms, the SCOPA-AUT, the Mayo Sleep Questionnaires and polysomnography were used to investigate non-motor signs (NMS), autonomic dysfunction and REM Behavioural Disorder (RBD). Cognitive functions were examined by an extensive battery of neuropsychological tests. In addition, motor and sensory nerve conduction studies and evoked laser potentials were performed. Cardiac sympathetic innervation was assessed in the two patients by 123I-metaiodobenzylguanidine (MIBG) scintigraphy, computing early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR). Results: Among the non-motor symptoms and autonomic signs, case 1 had cold intolerance, drooling and dysphagia, while case 2 had pain and urinary dysfunction. Both cases showed mood and behavioural disorders. RBD were not found, whereas the neuropsychological assessment revealed a progressive cognitive impairment. Neurophysiological studies revealed no abnormalities. Indexes of cardiac sympathetic innervation in the two patients did not differ from those of control subjects. Conclusions: Our findings expand the phenotypic profile of SYNJ1-related parkinsonism. Preserved cardiac sympathetic function and absence of RBD suggest that PARK20 should be explained by a pathogenic mechanism different from Lewy Body pathology, or that the latter is not as widespread as idiopathic Parkinson's disease. © 2015 Elsevier Ltd.
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism
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Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism
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De Rosa A, Pellegrino T, Pappata S, Pellecchia MT, Peluso S, Sacca F, Barone P, Cuocolo A, De Michele G
* Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations (269 views)
J Nucl Cardiol (ISSN: 1071-3581, 1532-6551, 1532-6551electronic), 2017 Feb; 24(1): 103-107.
Impact Factor: 4.011
View Export to BibTeX Export to EndNote
Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
* Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (476 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
View Export to BibTeX Export to EndNote
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V
* Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (400 views)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2013 Sep; 34(9): 1208-1215.
Impact Factor: 5.122
View Export to BibTeX Export to EndNote
* Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations (269 views)
J Nucl Cardiol (ISSN: 1071-3581, 1532-6551, 1532-6551electronic), 2017 Feb; 24(1): 103-107.
Impact Factor: 4.011
View Export to BibTeX Export to EndNote
Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
* Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (476 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
View Export to BibTeX Export to EndNote
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V
* Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (400 views)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2013 Sep; 34(9): 1208-1215.
Impact Factor: 5.122
View Export to BibTeX Export to EndNote
3 Records (3 excluding Abstracts).
Total impact factor: 12.017 (12.017 excluding Abstracts).
Total 5 year impact factor: 11.455 (11.455 excluding Abstracts).
Total impact factor: 12.017 (12.017 excluding Abstracts).
Total 5 year impact factor: 11.455 (11.455 excluding Abstracts).
251 views. Last view on Saturday 14 January 2023, 18:09:57
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