The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy
BackgroundDentatorubral-pallidoluysian atrophy (DRPLA) is a progressive neurodegenerative disorder caused by expanded CAG repeats in the ATN1 gene, characterized by cerebellar ataxia, seizures, tremors, and myoclonus. Although approximately 10% of patients with DRPLA reportedly develop schizophrenia...
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Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2025.1564856/full |
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| author | Ichiko Ikegami Yuka Mitsuhashi Koike Hideki Hayashi Sachiko Hirokawa Shoichiro Ando Tomohiko Ishihara Osamu Onodera |
| author_facet | Ichiko Ikegami Yuka Mitsuhashi Koike Hideki Hayashi Sachiko Hirokawa Shoichiro Ando Tomohiko Ishihara Osamu Onodera |
| author_sort | Ichiko Ikegami |
| collection | DOAJ |
| description | BackgroundDentatorubral-pallidoluysian atrophy (DRPLA) is a progressive neurodegenerative disorder caused by expanded CAG repeats in the ATN1 gene, characterized by cerebellar ataxia, seizures, tremors, and myoclonus. Although approximately 10% of patients with DRPLA reportedly develop schizophrenia-like psychosis (SLP), the distinct association between the clinical course of DRPLA and SLP remains unclear. This study aimed to elucidate the clinical features of SLP in patients with DRPLA.MethodsWe reviewed 22 cases of pathologically or genetically confirmed DRPLA with SLP, including 21 from the literature and one from our institution. Patient data, including clinical features, treatment information, and disease course, were extracted and analyzed.ResultsThe age of onset was categorized as juvenile (n = 6), early adult (n = 8), and late adult (n = 8). Initially, 10 patients presented with motor symptoms, with six exhibiting psychiatric symptoms and six with both motor and psychiatric symptoms simultaneously. Furthermore, three patients were initially diagnosed with schizophrenia, while four experienced progressive worsening of psychiatric symptoms. The number of CAG repeats ranged from 57 to 76 (mean, 66.0) in the 10 patients with a genetic diagnosis. Summarily, 12 patients received psychotropic medications, with nine showing improvement in delusions and hallucinations.ConclusionSLP can manifest across all DRPLA forms (juvenile-, early adult-, and late adult-onset) and may precede or follow motor symptoms. The clinical course and efficacy of psychotropic medications in patients with DRPLA and SLP suggest a shared pathogenesis between DRPLA and schizophrenia. |
| format | Article |
| id | doaj-art-2b7776b399f64aba92513fe45c40625b |
| institution | OA Journals |
| issn | 1664-2295 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Neurology |
| spelling | doaj-art-2b7776b399f64aba92513fe45c40625b2025-08-20T02:16:44ZengFrontiers Media S.A.Frontiers in Neurology1664-22952025-04-011610.3389/fneur.2025.15648561564856The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophyIchiko Ikegami0Yuka Mitsuhashi Koike1Hideki Hayashi2Sachiko Hirokawa3Shoichiro Ando4Tomohiko Ishihara5Osamu Onodera6Department of Neurology, Brain Research Institute, Niigata University, Niigata, JapanDepartment of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, JapanDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, JapanDepartment of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, JapanDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, JapanAdvanced Treatment of Neurological Diseases Branch, Brain Research Institute, Niigata University, Niigata, JapanDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, JapanBackgroundDentatorubral-pallidoluysian atrophy (DRPLA) is a progressive neurodegenerative disorder caused by expanded CAG repeats in the ATN1 gene, characterized by cerebellar ataxia, seizures, tremors, and myoclonus. Although approximately 10% of patients with DRPLA reportedly develop schizophrenia-like psychosis (SLP), the distinct association between the clinical course of DRPLA and SLP remains unclear. This study aimed to elucidate the clinical features of SLP in patients with DRPLA.MethodsWe reviewed 22 cases of pathologically or genetically confirmed DRPLA with SLP, including 21 from the literature and one from our institution. Patient data, including clinical features, treatment information, and disease course, were extracted and analyzed.ResultsThe age of onset was categorized as juvenile (n = 6), early adult (n = 8), and late adult (n = 8). Initially, 10 patients presented with motor symptoms, with six exhibiting psychiatric symptoms and six with both motor and psychiatric symptoms simultaneously. Furthermore, three patients were initially diagnosed with schizophrenia, while four experienced progressive worsening of psychiatric symptoms. The number of CAG repeats ranged from 57 to 76 (mean, 66.0) in the 10 patients with a genetic diagnosis. Summarily, 12 patients received psychotropic medications, with nine showing improvement in delusions and hallucinations.ConclusionSLP can manifest across all DRPLA forms (juvenile-, early adult-, and late adult-onset) and may precede or follow motor symptoms. The clinical course and efficacy of psychotropic medications in patients with DRPLA and SLP suggest a shared pathogenesis between DRPLA and schizophrenia.https://www.frontiersin.org/articles/10.3389/fneur.2025.1564856/fulldentatorubral-pallidoluysian atrophypolyglutamine diseasepsychosisschizophreniapsychotropic medications |
| spellingShingle | Ichiko Ikegami Yuka Mitsuhashi Koike Hideki Hayashi Sachiko Hirokawa Shoichiro Ando Tomohiko Ishihara Osamu Onodera The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy Frontiers in Neurology dentatorubral-pallidoluysian atrophy polyglutamine disease psychosis schizophrenia psychotropic medications |
| title | The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy |
| title_full | The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy |
| title_fullStr | The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy |
| title_full_unstemmed | The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy |
| title_short | The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy |
| title_sort | analysis of schizophrenia like psychosis in dentatorubral pallidoluysian atrophy |
| topic | dentatorubral-pallidoluysian atrophy polyglutamine disease psychosis schizophrenia psychotropic medications |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2025.1564856/full |
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