Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report
Abstract Background Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in exon 10 of ATXN3. Extra-cerebellar manifestations, including external ophthalmoplegia, dystonia, Parkinsonism, and per...
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2024-11-01
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| Online Access: | https://doi.org/10.1186/s12883-024-03948-x |
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| author | Anli Eki Atsuhiko Sugiyama Kazumoto Shibuya Yuki Nakagawa Takayuki Ishige Tomoki Suichi Ryo Otani Satoshi Kuwabara |
| author_facet | Anli Eki Atsuhiko Sugiyama Kazumoto Shibuya Yuki Nakagawa Takayuki Ishige Tomoki Suichi Ryo Otani Satoshi Kuwabara |
| author_sort | Anli Eki |
| collection | DOAJ |
| description | Abstract Background Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in exon 10 of ATXN3. Extra-cerebellar manifestations, including external ophthalmoplegia, dystonia, Parkinsonism, and peripheral neuropathy, are predominantly present in SCA3 cases. Here, we report a case of SCA3 presenting with a split hand and minipolymyoclonus. Case presentation A 73-year-old female patient presented with a 5-year history of ataxic gait. Neurological examination revealed cerebellar ataxia and minipolymyoclonus in the digits on both sides and muscle atrophy in the right hand, consistent with the split hand pattern. Electrodiagnostic studies demonstrated decreased amplitude of compound muscle action potentials and neurogenic motor unit potentials, indicating lower motor neuron involvement. Conclusions Our patient’s case indicated a split hand and minipolymyoclonus in SCA3. Clinicians should consider these extra-cerebellar manifestations in patients with SCA3. Although neither split hand nor minipolymyoclonus are likely to directly result in a specific etiological diagnosis, a common pathophysiological mechanism for both may be lower motor neuron involvement. This extracerebellar manifestation contributes to narrowing down the diagnostic possibilities for cases presenting with progressive cerebellar ataxia. |
| format | Article |
| id | doaj-art-977fc0c4d88c4dcdbad7dc21135afd4a |
| institution | DOAJ |
| issn | 1471-2377 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj-art-977fc0c4d88c4dcdbad7dc21135afd4a2025-08-20T02:50:04ZengBMCBMC Neurology1471-23772024-11-012411610.1186/s12883-024-03948-xSplit hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case reportAnli Eki0Atsuhiko Sugiyama1Kazumoto Shibuya2Yuki Nakagawa3Takayuki Ishige4Tomoki Suichi5Ryo Otani6Satoshi Kuwabara7Department of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDivision of Laboratory Medicine, Chiba University HospitalDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Graduate School of Medicine, Chiba UniversityAbstract Background Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in exon 10 of ATXN3. Extra-cerebellar manifestations, including external ophthalmoplegia, dystonia, Parkinsonism, and peripheral neuropathy, are predominantly present in SCA3 cases. Here, we report a case of SCA3 presenting with a split hand and minipolymyoclonus. Case presentation A 73-year-old female patient presented with a 5-year history of ataxic gait. Neurological examination revealed cerebellar ataxia and minipolymyoclonus in the digits on both sides and muscle atrophy in the right hand, consistent with the split hand pattern. Electrodiagnostic studies demonstrated decreased amplitude of compound muscle action potentials and neurogenic motor unit potentials, indicating lower motor neuron involvement. Conclusions Our patient’s case indicated a split hand and minipolymyoclonus in SCA3. Clinicians should consider these extra-cerebellar manifestations in patients with SCA3. Although neither split hand nor minipolymyoclonus are likely to directly result in a specific etiological diagnosis, a common pathophysiological mechanism for both may be lower motor neuron involvement. This extracerebellar manifestation contributes to narrowing down the diagnostic possibilities for cases presenting with progressive cerebellar ataxia.https://doi.org/10.1186/s12883-024-03948-xMyoclonusSpinocerebellar ataxiasMultiple system atrophyShort-interval intracortical inhibitionVoxel-based morphometry |
| spellingShingle | Anli Eki Atsuhiko Sugiyama Kazumoto Shibuya Yuki Nakagawa Takayuki Ishige Tomoki Suichi Ryo Otani Satoshi Kuwabara Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report BMC Neurology Myoclonus Spinocerebellar ataxias Multiple system atrophy Short-interval intracortical inhibition Voxel-based morphometry |
| title | Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report |
| title_full | Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report |
| title_fullStr | Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report |
| title_full_unstemmed | Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report |
| title_short | Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report |
| title_sort | split hand and minipolymyoclonus in spinocerebellar ataxia type 3 a case report |
| topic | Myoclonus Spinocerebellar ataxias Multiple system atrophy Short-interval intracortical inhibition Voxel-based morphometry |
| url | https://doi.org/10.1186/s12883-024-03948-x |
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