Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism (747 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.,
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Not available.
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:
Not available.
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 (802 views)
J Nucl Cardiol (ISSN: 1071-3581, 1532-6551, 1532-6551electronic), 2017 Feb; 24(1): 103-107.
Impact Factor: 4.011
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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 (791 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6745linking), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
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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 (952 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 (802 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 (791 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6745linking), 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 (952 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).
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