{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:23:19Z","timestamp":1784204599941,"version":"3.55.0"},"reference-count":85,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100009105","name":"Ministry of Internal Affairs and Communications","doi-asserted-by":"publisher","award":["B203060001"],"award-info":[{"award-number":["B203060001"]}],"id":[{"id":"10.13039\/501100009105","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Government of Japan Ministry of Education Culture Sports Science and Technology","doi-asserted-by":"publisher","award":["18H05523"],"award-info":[{"award-number":["18H05523"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Government of Japan Ministry of Education Culture Sports Science and Technology","doi-asserted-by":"publisher","award":["19H01091"],"award-info":[{"award-number":["19H01091"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Government of Japan Ministry of Education Culture Sports Science and Technology","doi-asserted-by":"publisher","award":["20K07866"],"award-info":[{"award-number":["20K07866"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Neurophysiology"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.clinph.2023.11.010","type":"journal-article","created":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T21:50:13Z","timestamp":1700689813000},"page":"73-87","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Age- and sex-related oculomotor manifestation of dopamine deficiency in Segawa disease"],"prefix":"10.1016","volume":"157","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0621-3536","authenticated-orcid":false,"given":"Yasuo","family":"Terao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Okihide","family":"Hikosaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Yugeta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun-ichi","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1579-8807","authenticated-orcid":false,"given":"Francesco","family":"Fisicaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8016-152X","authenticated-orcid":false,"given":"Yoshikazu","family":"Ugawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6659-7485","authenticated-orcid":false,"given":"Kyoko","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinph.2023.11.010_b0005","first-page":"315","article-title":"Posterior parietal cortex","volume":"3","author":"Andersen","year":"1989","journal-title":"Rev Oculomot Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0010","doi-asserted-by":"crossref","first-page":"4129","DOI":"10.1152\/jn.00094.2007","article-title":"Context-dependent effects of substantia nigra stimulation on eye movements","volume":"97","author":"Basso","year":"2007","journal-title":"J Neurophysiol"},{"issue":"6","key":"10.1016\/j.clinph.2023.11.010_bib418","doi-asserted-by":"crossref","first-page":"3659","DOI":"10.1152\/jn.01214.2004","article-title":"Crossmodal integration in the primate superior colliculus underlying the preparation and initiation of saccadic eye movements","volume":"93","author":"Bell","year":"2005","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0015","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/S0166-2236(97)01151-X","article-title":"Physiological aspects of information processing in the basal ganglia of normal and parkinsonian primates","volume":"21","author":"Bergman","year":"1998","journal-title":"Trends Neurosci"},{"issue":"5","key":"10.1016\/j.clinph.2023.11.010_b0020","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.celrep.2015.09.046","article-title":"A diencephalic dopamine source provides input to the superior colliculus, where D1 and D2 receptors segregate to distinct functional zones","volume":"13","author":"Bolton","year":"2015","journal-title":"Cell Rep"},{"key":"10.1016\/j.clinph.2023.11.010_b0025","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.neunet.2003.08.006","article-title":"How laminar frontal cortex and basal ganglia circuits interact to control planned and reactive saccades","volume":"17","author":"Brown","year":"2004","journal-title":"Neural Netw"},{"key":"10.1016\/j.clinph.2023.11.010_b0030","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1152\/jn.1985.53.3.603","article-title":"Primate frontal eye fields. I. Single neurons discharging before saccades","volume":"53","author":"Bruce","year":"1985","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0035","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1212\/01.WNL.0000142990.44979.5A","article-title":"Neural substrate of antisaccades: Role of subcortical structures","volume":"63","author":"Condy","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.clinph.2023.11.010_b0040","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/cercor\/bhj140","article-title":"Antisaccade deficit after inactivation of the principal sulcus in monkeys","volume":"17","author":"Condy","year":"2007","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.clinph.2023.11.010_b0045","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.parkreldis.2011.10.003","article-title":"Are Dopa-responsive dystonia and Parkinson\u2019s disease related disorders? A case report","volume":"18","author":"Eggers","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.clinph.2023.11.010_b0055","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/BF00237333","article-title":"Enhanced activation of neurons in prelunate cortex before visually guided saccades of trained rhesus monkeys","volume":"44","author":"Fischer","year":"1981","journal-title":"Exp Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0060","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1007\/BF00229043","article-title":"Separate populations of visually guided saccades in humans: Reaction times and amplitudes","volume":"92","author":"Fischer","year":"1993","journal-title":"Exp Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0065","first-page":"64","article-title":"Etiology and pteridin metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease)","volume":"2","author":"Fujita","year":"1990","journal-title":"Med J Kushiro City Hosp"},{"key":"10.1016\/j.clinph.2023.11.010_b0070","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/0006-3223(94)90058-2","article-title":"Voluntary control of saccadic eye movements in patients with frontal cortical lesions and parkinsonian patients in comparison with that in schizophrenics","volume":"36","author":"Fukushima","year":"1994","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.clinph.2023.11.010_b0075","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ana.10820","article-title":"Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency","volume":"55","author":"Furukawa","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0080","first-page":"327","article-title":"Early-onset Parkinsonism with dystonia. Clinical and biochemical differences from hereditary progressive dystonia or DOPA-responsive dystonia","volume":"69","author":"Furukawa","year":"1996","journal-title":"Adv Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0085","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1212\/WNL.50.4.1015","article-title":"Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia","volume":"50","author":"Furukawa","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.clinph.2023.11.010_b0090","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/ana.10560","article-title":"A direct prefrontotectal tract against distractibility in the human brain","volume":"53","author":"Gaymard","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0095","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1046\/j.1460-9568.2003.02570.x","article-title":"The parieto-collicular pathway: Anatomical location and contribution to saccade generation","volume":"17","author":"Gaymard","year":"2003","journal-title":"Eur J Neurosci"},{"key":"10.1016\/j.clinph.2023.11.010_b0100","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/BF00235863","article-title":"Frontal lobe lesions in man cause difficulties in suppressing reflexive glances and in generating goal-directed saccades","volume":"58","author":"Guitton","year":"1985","journal-title":"Exp Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0105","series-title":"Recent advances in clinical neurophysiology","first-page":"1009","article-title":"Selective pathology, disease pathogenesis and function in the basal ganglia","author":"Gibb","year":"1996"},{"issue":"3","key":"10.1016\/j.clinph.2023.11.010_bib417","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1007\/s00221-004-2013-z","article-title":"Recovery of saccadic dysmetria following localized lesions in monkey superior colliculus","volume":"160","author":"Hanes","year":"2005","journal-title":"Exp Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0110","series-title":"Hereditary progressive dystonia with marked diurnal fluctuation","first-page":"159","article-title":"Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation","author":"Hikosaka","year":"1993"},{"key":"10.1016\/j.clinph.2023.11.010_b0115","series-title":"Age-related dopamine-deficient disorders","first-page":"59","article-title":"Voluntary saccades in normal and in dopamine-deficient subjects","author":"Hikosaka","year":"1995"},{"key":"10.1016\/j.clinph.2023.11.010_b0120","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1152\/physrev.2000.80.3.953","article-title":"Role of the basal ganglia in the control of purposive saccadic eye movements","volume":"80","author":"Hikosaka","year":"2000","journal-title":"Physiol Rev"},{"key":"10.1016\/j.clinph.2023.11.010_b0125","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1152\/jn.1983.49.5.1230","article-title":"Visual and oculomotor functions of monkey substantia nigra pars reticulata. I. Relation of visual and auditory responses to saccades","volume":"49","author":"Hikosaka","year":"1983","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0130","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1152\/jn.1985.53.1.266","article-title":"Modification of saccadic eye movements by GABA-related substances. I. Effect of muscimol and bicuculline in monkey superior colliculus","volume":"53","author":"Hikosaka","year":"1985","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0135","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1152\/jn.1985.53.1.292","article-title":"Modification of saccadic eye movements by GABA-related substances. II. Effects of muscimol in monkey substantia nigra pars reticulata","volume":"53","author":"Hikosaka","year":"1985","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0140","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1136\/jnnp.2006.099754","article-title":"Levodopa slows prosaccades and improves antisaccades: An eye movement study in Parkinson\u2019s disease","volume":"78","author":"Hood","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.clinph.2023.11.010_b0145","first-page":"101","article-title":"Striatal dopamine in dopa-responsive dystonia: Comparison with idiopathic Parkinson\u2019s disease and other dopamine-dependent disorders","volume":"vol. 14","author":"Hornykiewicz","year":"1995"},{"key":"10.1016\/j.clinph.2023.11.010_b0150","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1194-236","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene","volume":"8","author":"Ichinose","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.clinph.2023.11.010_b0155","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.parkreldis.2011.06.008","article-title":"A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene","volume":"17","author":"Irie","year":"2011","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.clinph.2023.11.010_b0160","doi-asserted-by":"crossref","first-page":"7209","DOI":"10.1523\/JNEUROSCI.0487-08.2008","article-title":"Role for subthalamic nucleus neurons in switching from automatic to controlled eye movement","volume":"28","author":"Isoda","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.clinph.2023.11.010_b0165","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/ana.410430614","article-title":"Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia","volume":"43","author":"Jeon","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0170","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.bandc.2008.08.017","article-title":"Neurophysiology and neuroanatomy of reflexive and voluntary saccades in non-human primates","volume":"68","author":"Johnston","year":"2008","journal-title":"Brain Cogn"},{"key":"10.1016\/j.clinph.2023.11.010_b0175","first-page":"178","article-title":"Function of the indirect pathway in the basal ganglia oculomotor system: visuo-oculomotor activities of the external pallidum neurons","volume":"vol. 14","author":"Kato","year":"1995"},{"key":"10.1016\/j.clinph.2023.11.010_b0180","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.neuron.2013.06.044","article-title":"Distinct basal ganglia circuits controlling behaviors guided by flexible and stable values","volume":"79","author":"Kim","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.clinph.2023.11.010_b0185","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1007\/s00415-002-0691-7","article-title":"What is pathological with gaze shift fragmentation in Parkinson\u2019s disease?","volume":"249","author":"Kimmig","year":"2002","journal-title":"J Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0190","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1212\/WNL.50.4.1028","article-title":"Striatal D2 receptors in symptomatic and asymptomatic carriers of dopa-responsive dystonia measured with [11C]-raclopride and positron-emission tomography","volume":"50","author":"Kishore","year":"1998","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.clinph.2023.11.010_bib416","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1152\/jn.00830.2003","article-title":"Activity of rostral superior colliculus neurons during passive and active viewing of motion","volume":"92","author":"Krauzlis","year":"2004","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0195","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/0306-4522(95)00583-8","article-title":"Apomorphine and dopamine D1 receptor agonists increase the firing rates of subthalamic nucleus neurons","volume":"72","author":"Kreiss","year":"1996","journal-title":"Neuroscience"},{"key":"10.1016\/j.clinph.2023.11.010_b0200","doi-asserted-by":"crossref","first-page":"6807","DOI":"10.1523\/JNEUROSCI.17-17-06807.1997","article-title":"The response of subthalamic nucleus neurons to model of Parkinson\u2019s disease","volume":"17","author":"Kreiss","year":"1997","journal-title":"J Neurosci"},{"key":"10.1016\/j.clinph.2023.11.010_b0205","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1080\/87565640701361013","article-title":"Effects of gender and age on motor exam in typically developing children","volume":"32","author":"Larson","year":"2007","journal-title":"Dev Neuropsychol"},{"key":"10.1016\/j.clinph.2023.11.010_b0210","first-page":"95","article-title":"Striatal dopamine D2 receptors in dopa-responsive dystonia and Parkinson\u2019s disease","volume":"vol. 14","author":"Leenders","year":"1995"},{"key":"10.1016\/j.clinph.2023.11.010_b0215","doi-asserted-by":"crossref","first-page":"1562","DOI":"10.1093\/brain\/awn083","article-title":"The sensory and motor representation of synchronized oscillations in the globus pallidus in patients with primary dystonia","volume":"131","author":"Liu","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.clinph.2023.11.010_b0220","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1037\/0894-4105.18.1.115","article-title":"Control of fixation and saccades in humans with chronic lesions of oculomotor cortex","volume":"18","author":"Machado","year":"2004","journal-title":"Neuropsychology"},{"key":"10.1016\/j.clinph.2023.11.010_b0225","series-title":"New concepts in neurotransmitter regulation","first-page":"53","article-title":"Some characteristics of brain tyrosine hydroxylase","author":"McGeer","year":"1973"},{"key":"10.1016\/j.clinph.2023.11.010_b0230","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s00221-006-0412-z","article-title":"Saccadic latency distributions in Parkinson\u2019s disease and the effects of L-dopa","volume":"174","author":"Michell","year":"2006","journal-title":"Exp Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0235","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/0959-4388(93)90167-W","article-title":"Basal ganglia intrinsic circuits and their role in behavior","volume":"3","author":"Mink","year":"1993","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0240","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s002210050473","article-title":"Age-related performance of human subjects on saccadic eye movement tasks","volume":"121","author":"Munoz","year":"1998","journal-title":"Exp Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0245","series-title":"Eye movements: a window on mind and brain","first-page":"99","article-title":"Using eye movements to probe development and dysfunction","author":"Munoz","year":"2007"},{"key":"10.1016\/j.clinph.2023.11.010_b0250","series-title":"Highlights in Neuro-Ophthalmology: Proceedings of the Sixth Meeting of the International Neuro-Ophthalmology Society (INOS), Hakone, Japan, 8\u201314 June, 1986","first-page":"139","article-title":"Voluntary saccadic eye movements in basal ganglia disorders","author":"Nomura","year":"1987"},{"key":"10.1016\/j.clinph.2023.11.010_b0255","first-page":"253","article-title":"Dystonias responding to levodopa and failure in biopterin metabolism","volume":"78","author":"Nomura","year":"1998","journal-title":"Adv Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0260","series-title":"Hereditary progressive dystonia with marked diurnal fluctuation","first-page":"21","article-title":"Dopa-responsive dystonia: Clinical characteristics and definition","author":"Nygaard","year":"1993"},{"key":"10.1016\/j.clinph.2023.11.010_b0265","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.clinph.2009.12.006","article-title":"The effect of electromagnetic field emitted by a mobile phone on the inhibitory control of saccades","volume":"121","author":"Okano","year":"2010","journal-title":"Clin Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0270","doi-asserted-by":"crossref","first-page":"3666","DOI":"10.1152\/jn.1996.76.6.3666","article-title":"Saccadic reaction time in the monkey: Advanced preparation of oculomotor programs is primarily responsible for express saccade occurrence","volume":"76","author":"Par\u00e9","year":"1996","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0275","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1055\/s-2007-1003334","article-title":"Differences between male and female brains -developmental mechanisms and implications","volume":"24","author":"Pilgrim","year":"1992","journal-title":"Horm Metab Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0280","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/ana.410350405","article-title":"Dopa-responsive dystonia: pathological and biochemical observations in a case","volume":"35","author":"Rajput","year":"1994","journal-title":"Ann Neurol"},{"issue":"Pt 1","key":"10.1016\/j.clinph.2023.11.010_bib419","first-page":"10","article-title":"What clinical disorders tell us about the neural control of saccadic eye movements","volume":"130","author":"Ramat","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.clinph.2023.11.010_b0285","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/0166-2236(91)90047-X","article-title":"Sexual differentiation of monoaminergic neurons -genetic or epigenetic?","volume":"14","author":"Reisert","year":"1991","journal-title":"Trends Neurosci"},{"issue":"Suppl. 1","key":"10.1016\/j.clinph.2023.11.010_b0290","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1016\/S0387-7604(00)00149-2","article-title":"Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia","volume":"22","author":"Segawa","year":"2000","journal-title":"Brain Dev"},{"key":"10.1016\/j.clinph.2023.11.010_b0295","first-page":"1","article-title":"Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5)","volume":"32","author":"Segawa","year":"2009","journal-title":"Chang Gung Med J"},{"key":"10.1016\/j.clinph.2023.11.010_b0300","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.braindev.2010.10.015","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation","volume":"33","author":"Segawa","year":"2011","journal-title":"Brain Dev"},{"key":"10.1016\/j.clinph.2023.11.010_b0305","first-page":"135","article-title":"Catecholamine metabolism in a neurological disease in childhood","volume":"Volume 2","author":"Segawa","year":"1982"},{"key":"10.1016\/j.clinph.2023.11.010_b0310","first-page":"155","article-title":"A single gene for dystonia involves both or either of the two striatal pathways","volume":"vol. 52","author":"Segawa","year":"2002"},{"key":"10.1016\/j.clinph.2023.11.010_b0315","first-page":"389","article-title":"DOPA-responsive dystonic Parkinsonism-pathophysiologic considerations","volume":"80","author":"Segawa","year":"1999","journal-title":"Adv Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0320","first-page":"568","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation \u2013 Pathophysiological importance of the age of onset","volume":"60","author":"Segawa","year":"1993","journal-title":"Adv Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0325","first-page":"525","article-title":"Deficit in saccadic eye movements in basal ganglia disorders","volume":"vol. IV","author":"Segawa","year":"1994"},{"key":"10.1016\/j.clinph.2023.11.010_b0330","first-page":"10","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia: Pathognomonic clinical features","volume":"vol. 14","author":"Segawa","year":"1995"},{"key":"10.1016\/j.clinph.2023.11.010_b0335","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1055\/s-0033-1337337","article-title":"Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: Evidence observed in studies on Segawa disease","volume":"44","author":"Segawa","year":"2013","journal-title":"Neuropediatrics"},{"issue":"Suppl. 6","key":"10.1016\/j.clinph.2023.11.010_b0340","doi-asserted-by":"crossref","first-page":"S32","DOI":"10.1002\/ana.10630","article-title":"Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)","volume":"54","author":"Segawa","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0345","first-page":"217","article-title":"Is phenotypic variation of hereditary progressive dystonia with diurnal fluctuation\/dopa-responsive dystonia (HPD\/DRD) caused by the difference of the locus of mutation on the GTP Cyclohydrolase 1 (GCH-1) gene?","volume":"94","author":"Segawa","year":"2004","journal-title":"Adv Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0350","series-title":"Recent advances in clinical neurophysiology","first-page":"170","article-title":"Saccadic eye movements in basal ganglia disorders","author":"Segawa","year":"1996"},{"key":"10.1016\/j.clinph.2023.11.010_b0355","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/bs.pbr.2019.05.001","article-title":"Saccades in Parkinson's disease: Hypometric, slow, and maladaptive","volume":"249","author":"Shaikh","year":"2019","journal-title":"Prog Brain Res"},{"key":"10.1016\/j.clinph.2023.11.010_b0360","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1136\/bjo.2010.179630","article-title":"\u2018Staircase\u2019 square-wave jerks in early Parkinson\u2019s disease","volume":"95","author":"Shaikh","year":"2011","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.clinph.2023.11.010_b0365","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1515\/pteridines.1994.5.1.18","article-title":"Early diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency","volume":"5","author":"Shintaku","year":"1994","journal-title":"Pteridines"},{"key":"10.1016\/j.clinph.2023.11.010_b0370","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1002\/ana.410340518","article-title":"Positron emission tomography studies of dopa-responsive dystonia, and early-onset idiopathic parkinsonism","volume":"34","author":"Snow","year":"1993","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clinph.2023.11.010_b0375","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.clinph.2012.07.008","article-title":"Deterioration of horizontal saccades in progressive supranuclear palsy","volume":"124","author":"Terao","year":"2013","journal-title":"Clin Neurophysiol"},{"issue":"8","key":"10.1016\/j.clinph.2023.11.010_b0380","doi-asserted-by":"crossref","first-page":"2953","DOI":"10.1016\/j.clinph.2015.07.041","article-title":"Saccade abnormalities associated with focal cerebral lesions \u2013 How cortical and basal ganglia commands shape saccades in humans","volume":"127","author":"Terao","year":"2016","journal-title":"Clin Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0385","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1152\/jn.1998.80.2.936","article-title":"Visualization of the information through human oculomotor cortical regions by transcranial magnetic stimulation","volume":"80","author":"Terao","year":"1998","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0390","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/j.neuropsychologia.2011.03.002","article-title":"Initiation and inhibitory control of saccades with the progression of Parkinson\u2019s disease \u2013 Changes in three major drives converging on the superior colliculus","volume":"49","author":"Terao","year":"2011","journal-title":"Neuropsychologia"},{"key":"10.1016\/j.clinph.2023.11.010_b0395","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1016\/j.clinph.2007.03.014","article-title":"Effects of thirty-minute mobile phone exposure on saccades","volume":"118","author":"Terao","year":"2007","journal-title":"Clin Neurophysiol"},{"key":"10.1016\/j.clinph.2023.11.010_b0400","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1136\/jnnp.2008.155861","article-title":"Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients","volume":"80","author":"Trender-Gerhard","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.clinph.2023.11.010_b0405","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0065-2423(08)60182-1","article-title":"Neopterin as marker for activation of cellular immunity: Immunologic basis and clinical application","volume":"27","author":"Wachter","year":"1989","journal-title":"Adv Clin Chem"},{"issue":"Suppl. 1","key":"10.1016\/j.clinph.2023.11.010_b0410","first-page":"S296","article-title":"Effects of levodopa on saccade performance in Parkinson\u2019s disease","volume":"23","author":"Yugeta","year":"2008","journal-title":"Mov Disord"}],"container-title":["Clinical Neurophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388245723007800?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388245723007800?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T12:30:08Z","timestamp":1761395408000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1388245723007800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":85,"alternative-id":["S1388245723007800"],"URL":"https:\/\/doi.org\/10.1016\/j.clinph.2023.11.010","relation":{},"ISSN":["1388-2457"],"issn-type":[{"value":"1388-2457","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Age- and sex-related oculomotor manifestation of dopamine deficiency in Segawa disease","name":"articletitle","label":"Article Title"},{"value":"Clinical Neurophysiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinph.2023.11.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}