Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism
Abstract Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy characterized by drug‐resistant seizures and multiple comorbidities. It has been reported that in adulthood, it may be accompanied by parkinsonism, but the pathogenesis of this condition remains unclear. We...
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Wiley
2025-06-01
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| Series: | Epilepsia Open |
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| Online Access: | https://doi.org/10.1002/epi4.70034 |
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| author | Ryo Sugiyama Takashi Saito Atsuko Katsumoto Shota Yoneno Tomoyuki Akiyama Hirofumi Komaki |
| author_facet | Ryo Sugiyama Takashi Saito Atsuko Katsumoto Shota Yoneno Tomoyuki Akiyama Hirofumi Komaki |
| author_sort | Ryo Sugiyama |
| collection | DOAJ |
| description | Abstract Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy characterized by drug‐resistant seizures and multiple comorbidities. It has been reported that in adulthood, it may be accompanied by parkinsonism, but the pathogenesis of this condition remains unclear. We performed dopamine transporter single‐photon emission computed tomography (DAT SPECT) and measured monoamine metabolite levels in the cerebrospinal fluid (CSF) in two adult patients with DS who developed parkinsonism around the age of 30 years. DAT SPECT showed no abnormalities in either patient, whereas CSF tests revealed significant decreases in the levels of homovanillic and 5‐hydroxyindoleacetic acids. One patient with severe symptoms was treated with levodopa–carbidopa, which improved parkinsonism manifestations. The other patient initiated treatment with a low dose and has been continuing the treatment without any reported side effects. In conclusion, CSF testing can detect a decrease in dopamine synthesis and may be useful in monitoring the efficacy of levodopa treatment in patients with DS and parkinsonism. Plain Language Summary Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy. DS can lead to the development of parkinsonism in adulthood, a clinical syndrome characterized by tremor, slowed movements, and rigidity. Although parkinsonism is a significant issue for patients, its underlying pathology has not yet been elucidated. In this study, we confirmed that the levels of monoamine metabolites in the CSF were low in two patients, potentially shedding light on the pathology involved. |
| format | Article |
| id | doaj-art-b9b42d2b95d249e082b4b8aa5bfc6fa5 |
| institution | OA Journals |
| issn | 2470-9239 |
| language | English |
| publishDate | 2025-06-01 |
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| series | Epilepsia Open |
| spelling | doaj-art-b9b42d2b95d249e082b4b8aa5bfc6fa52025-08-20T02:05:59ZengWileyEpilepsia Open2470-92392025-06-0110396597010.1002/epi4.70034Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonismRyo Sugiyama0Takashi Saito1Atsuko Katsumoto2Shota Yoneno3Tomoyuki Akiyama4Hirofumi Komaki5Department of Child Neurology National Center Hospital, National Center of Neurology and Psychiatry Kodaira JapanDepartment of Child Neurology National Center Hospital, National Center of Neurology and Psychiatry Kodaira JapanDepartment of Neurology National Center Hospital, National Center of Neurology and Psychiatry Kodaira JapanDepartment of Child Neurology National Center Hospital, National Center of Neurology and Psychiatry Kodaira JapanDepartment of Pediatric Neurology Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital Okayama JapanDepartment of Child Neurology National Center Hospital, National Center of Neurology and Psychiatry Kodaira JapanAbstract Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy characterized by drug‐resistant seizures and multiple comorbidities. It has been reported that in adulthood, it may be accompanied by parkinsonism, but the pathogenesis of this condition remains unclear. We performed dopamine transporter single‐photon emission computed tomography (DAT SPECT) and measured monoamine metabolite levels in the cerebrospinal fluid (CSF) in two adult patients with DS who developed parkinsonism around the age of 30 years. DAT SPECT showed no abnormalities in either patient, whereas CSF tests revealed significant decreases in the levels of homovanillic and 5‐hydroxyindoleacetic acids. One patient with severe symptoms was treated with levodopa–carbidopa, which improved parkinsonism manifestations. The other patient initiated treatment with a low dose and has been continuing the treatment without any reported side effects. In conclusion, CSF testing can detect a decrease in dopamine synthesis and may be useful in monitoring the efficacy of levodopa treatment in patients with DS and parkinsonism. Plain Language Summary Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy. DS can lead to the development of parkinsonism in adulthood, a clinical syndrome characterized by tremor, slowed movements, and rigidity. Although parkinsonism is a significant issue for patients, its underlying pathology has not yet been elucidated. In this study, we confirmed that the levels of monoamine metabolites in the CSF were low in two patients, potentially shedding light on the pathology involved.https://doi.org/10.1002/epi4.70034dopamine transporterlevodopamonoamine metabolitessingle‐photon emission computed tomography |
| spellingShingle | Ryo Sugiyama Takashi Saito Atsuko Katsumoto Shota Yoneno Tomoyuki Akiyama Hirofumi Komaki Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism Epilepsia Open dopamine transporter levodopa monoamine metabolites single‐photon emission computed tomography |
| title | Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism |
| title_full | Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism |
| title_fullStr | Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism |
| title_full_unstemmed | Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism |
| title_short | Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism |
| title_sort | decreased homovanillic acid and 5 hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with dravet syndrome with parkinsonism |
| topic | dopamine transporter levodopa monoamine metabolites single‐photon emission computed tomography |
| url | https://doi.org/10.1002/epi4.70034 |
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