Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient
Spastic ataxic syndrome is a combination of cerebellar ataxia with spasticity and other pyramidal features. Common causes of spastic ataxic syndrome include spinocerebellar ataxia (SCA) 1, SCA2, autosomal recessive ataxia of Charlevoix–Saguenay, Friedreich ataxia, and hereditary spastic paraplegia t...
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Annals of Indian Academy of Neurology |
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| Online Access: | https://journals.lww.com/10.4103/aian.aian_166_24 |
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| author | Gosala RK Sarma Abhinaya Varidireddy GG Sharath Sunitha P Kumaran |
| author_facet | Gosala RK Sarma Abhinaya Varidireddy GG Sharath Sunitha P Kumaran |
| author_sort | Gosala RK Sarma |
| collection | DOAJ |
| description | Spastic ataxic syndrome is a combination of cerebellar ataxia with spasticity and other pyramidal features. Common causes of spastic ataxic syndrome include spinocerebellar ataxia (SCA) 1, SCA2, autosomal recessive ataxia of Charlevoix–Saguenay, Friedreich ataxia, and hereditary spastic paraplegia type-7. We report a 32-year-old female who presented with unsteadiness of gait, incoordination, and tremulousness of both hands for 10 years with microphthalmia, microdontia, dental caries, and syndactyly. Magnetic resonance imaging of the brain showed T2 fluid-attenuated inversion recovery hyper intensities in periventricular and lobar white matter and internal capsule. Thus, we report a genetically confirmed oculodentodigital dysplasia (ODDD), an autosomal dominant disorder, in an Indian patient who presented with spastic ataxic syndrome, a rarity that has not been reported so far. |
| format | Article |
| id | doaj-art-14ced86cad234a2a9c1a2d19db6c85cf |
| institution | DOAJ |
| issn | 0972-2327 1998-3549 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj-art-14ced86cad234a2a9c1a2d19db6c85cf2025-08-20T03:02:06ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492025-01-0128111211510.4103/aian.aian_166_24Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian PatientGosala RK SarmaAbhinaya VaridireddyGG SharathSunitha P KumaranSpastic ataxic syndrome is a combination of cerebellar ataxia with spasticity and other pyramidal features. Common causes of spastic ataxic syndrome include spinocerebellar ataxia (SCA) 1, SCA2, autosomal recessive ataxia of Charlevoix–Saguenay, Friedreich ataxia, and hereditary spastic paraplegia type-7. We report a 32-year-old female who presented with unsteadiness of gait, incoordination, and tremulousness of both hands for 10 years with microphthalmia, microdontia, dental caries, and syndactyly. Magnetic resonance imaging of the brain showed T2 fluid-attenuated inversion recovery hyper intensities in periventricular and lobar white matter and internal capsule. Thus, we report a genetically confirmed oculodentodigital dysplasia (ODDD), an autosomal dominant disorder, in an Indian patient who presented with spastic ataxic syndrome, a rarity that has not been reported so far.https://journals.lww.com/10.4103/aian.aian_166_24ataxiamicrodontiaoculodentodigital dysplasiaspastic ataxic syndromespasticitysyndactyly |
| spellingShingle | Gosala RK Sarma Abhinaya Varidireddy GG Sharath Sunitha P Kumaran Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient Annals of Indian Academy of Neurology ataxia microdontia oculodentodigital dysplasia spastic ataxic syndrome spasticity syndactyly |
| title | Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient |
| title_full | Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient |
| title_fullStr | Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient |
| title_full_unstemmed | Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient |
| title_short | Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient |
| title_sort | oculodentodigital dysplasia presenting as spastic ataxic syndrome in an indian patient |
| topic | ataxia microdontia oculodentodigital dysplasia spastic ataxic syndrome spasticity syndactyly |
| url | https://journals.lww.com/10.4103/aian.aian_166_24 |
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