Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive cerebellar ataxia and various noncerebellar manifestations. This study aimed to investigate the clinical and genetic correlations among patients with SCA at a tertiary care center in...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Annals of Movement Disorders |
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| Online Access: | https://doi.org/10.4103/aomd.aomd_45_23 |
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| author | Bashir Sanie Atif Kawoosa Ibrar Ahmed Khan Sheikh Hilal Zubair Ul Nazir Adnan Firdaus Raina |
| author_facet | Bashir Sanie Atif Kawoosa Ibrar Ahmed Khan Sheikh Hilal Zubair Ul Nazir Adnan Firdaus Raina |
| author_sort | Bashir Sanie |
| collection | DOAJ |
| description | INTRODUCTION: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive cerebellar ataxia and various noncerebellar manifestations. This study aimed to investigate the clinical and genetic correlations among patients with SCA at a tertiary care center in Srinagar, Kashmir. METHODS: This cross-sectional study included 93 patients with hereditary and sporadic ataxias. The patients underwent clinical assessments, brain imaging, and genetic testing for SCA1, SCA2, SCA3, SCA6, SCA12, SCA 17, and dentatorubral-pallidoluysian atrophy (DRPLA) using polymerase chain reaction (PCR) and agarose gel electrophoresis. RESULTS: Among the 93 patients, 23.7% were in their second or third decade of life, and 62.4% were male. All patients presented gait ataxia and dysarthria (100%). Cerebellar atrophy was observed in 60.2% of the patients. Genetic testing identified SCA1 in 17.2%, SCA2 in 14%, SCA6 and SCA12 in 1.1% each, SCA17 in 2.2%, and DRPLA in 4.3% of the patients. No cases of SCA3 were found. Clinical manifestations such as slow saccades, nystagmus, dysdiadochokinesia, dysmetria, impaired finger-nose-finger test, and positive Babinski sign were significantly associated with specific genetic subtypes (p < 0.05). However, the radiological findings did not indicate a significant association with genetic subtypes (p = 0.163). CONCLUSION: This study revealed a unique distribution of SCA subtypes in the Kashmiri population, which is characterized by a higher prevalence of consanguinity and distinct clinical and genetic profiles. In the future, multi-center studies with broader genetic testing panels and longitudinal follow-ups are needed to further elucidate the phenotypic and genotypic variations in this population. |
| format | Article |
| id | doaj-art-b6cf802ef097484f838d5e19a9ce16dd |
| institution | DOAJ |
| issn | 2590-3446 2590-3454 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
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| series | Annals of Movement Disorders |
| spelling | doaj-art-b6cf802ef097484f838d5e19a9ce16dd2025-08-20T03:09:46ZengWolters Kluwer Medknow PublicationsAnnals of Movement Disorders2590-34462590-34542025-01-0181374310.4103/aomd.aomd_45_23Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigationBashir SanieAtif KawoosaIbrar Ahmed KhanSheikh HilalZubair Ul NazirAdnan Firdaus RainaINTRODUCTION: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive cerebellar ataxia and various noncerebellar manifestations. This study aimed to investigate the clinical and genetic correlations among patients with SCA at a tertiary care center in Srinagar, Kashmir. METHODS: This cross-sectional study included 93 patients with hereditary and sporadic ataxias. The patients underwent clinical assessments, brain imaging, and genetic testing for SCA1, SCA2, SCA3, SCA6, SCA12, SCA 17, and dentatorubral-pallidoluysian atrophy (DRPLA) using polymerase chain reaction (PCR) and agarose gel electrophoresis. RESULTS: Among the 93 patients, 23.7% were in their second or third decade of life, and 62.4% were male. All patients presented gait ataxia and dysarthria (100%). Cerebellar atrophy was observed in 60.2% of the patients. Genetic testing identified SCA1 in 17.2%, SCA2 in 14%, SCA6 and SCA12 in 1.1% each, SCA17 in 2.2%, and DRPLA in 4.3% of the patients. No cases of SCA3 were found. Clinical manifestations such as slow saccades, nystagmus, dysdiadochokinesia, dysmetria, impaired finger-nose-finger test, and positive Babinski sign were significantly associated with specific genetic subtypes (p < 0.05). However, the radiological findings did not indicate a significant association with genetic subtypes (p = 0.163). CONCLUSION: This study revealed a unique distribution of SCA subtypes in the Kashmiri population, which is characterized by a higher prevalence of consanguinity and distinct clinical and genetic profiles. In the future, multi-center studies with broader genetic testing panels and longitudinal follow-ups are needed to further elucidate the phenotypic and genotypic variations in this population.https://doi.org/10.4103/aomd.aomd_45_23cerebellar diseasesgenetic testinghereditary ataxianeurogeneticsspinocerebellar ataxias |
| spellingShingle | Bashir Sanie Atif Kawoosa Ibrar Ahmed Khan Sheikh Hilal Zubair Ul Nazir Adnan Firdaus Raina Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation Annals of Movement Disorders cerebellar diseases genetic testing hereditary ataxia neurogenetics spinocerebellar ataxias |
| title | Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation |
| title_full | Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation |
| title_fullStr | Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation |
| title_full_unstemmed | Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation |
| title_short | Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation |
| title_sort | clinical and genetic correlation of spinocerebellar ataxia patients insights from a tertiary care investigation |
| topic | cerebellar diseases genetic testing hereditary ataxia neurogenetics spinocerebellar ataxias |
| url | https://doi.org/10.4103/aomd.aomd_45_23 |
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