Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis. Ganaraja, V. H., Holla, V. V., Stezin, A., Kamble, N., Yadav, R., Purushottam, M., Jain, S., & Pal, P. K. Tremor and other hyperkinetic movements (New York, N.Y.), 12:13, 2022. Place: Englanddoi abstract bibtex Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied. Results: A total of 49 patients (34 males, 42 families) were included of which 79.6% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 +/- 11.7 years and 53.16 +/- 12.78 years respectively. The most common initial symptom was tremor (73.5%), followed by ataxia (18.4%). At presentation, 95.9% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7%). At presentation, 73.5% of patients had ataxia and 22.4% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 +/- 6.10 (40-72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 & 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat. Conclusion: SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non-Aggarwal families.
@article{ganaraja_clinical_2022,
title = {Clinical, {Radiological}, and {Genetic} {Profile} of {Spinocerebellar} {Ataxia} 12: {A} {Hospital}-{Based} {Cohort} {Analysis}.},
volume = {12},
copyright = {Copyright: (c) 2022 The Author(s).},
issn = {2160-8288},
doi = {10.5334/tohm.686},
abstract = {Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied. Results: A total of 49 patients (34 males, 42 families) were included of which 79.6\% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 +/- 11.7 years and 53.16 +/- 12.78 years respectively. The most common initial symptom was tremor (73.5\%), followed by ataxia (18.4\%). At presentation, 95.9\% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7\%). At presentation, 73.5\% of patients had ataxia and 22.4\% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 +/- 6.10 (40-72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 \& 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat. Conclusion: SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non-Aggarwal families.},
language = {eng},
journal = {Tremor and other hyperkinetic movements (New York, N.Y.)},
author = {Ganaraja, Valakunja Harikrishna and Holla, Vikram V. and Stezin, Albert and Kamble, Nitish and Yadav, Ravi and Purushottam, Meera and Jain, Sanjeev and Pal, Pramod Kumar},
year = {2022},
pmid = {35531119},
pmcid = {PMC9029677},
note = {Place: England},
keywords = {*Spinocerebellar Ataxias/diagnostic imaging/genetics, *Tremor/diagnostic imaging/genetics, Ataxia, Cohort Studies, Female, Genetic Profile, Hospitals, Humans, Male, Nerve Tissue Proteins/genetics, Retrospective Studies, Spinocerebellar ataxia type 12, Tremors, Trinucleotide repeats},
pages = {13},
}
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{"_id":"WyGYLhLKmMBAaaaF8","bibbaseid":"ganaraja-holla-stezin-kamble-yadav-purushottam-jain-pal-clinicalradiologicalandgeneticprofileofspinocerebellarataxia12ahospitalbasedcohortanalysis-2022","author_short":["Ganaraja, V. H.","Holla, V. V.","Stezin, A.","Kamble, N.","Yadav, R.","Purushottam, M.","Jain, S.","Pal, P. K."],"bibdata":{"bibtype":"article","type":"article","title":"Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.","volume":"12","copyright":"Copyright: (c) 2022 The Author(s).","issn":"2160-8288","doi":"10.5334/tohm.686","abstract":"Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied. Results: A total of 49 patients (34 males, 42 families) were included of which 79.6% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 +/- 11.7 years and 53.16 +/- 12.78 years respectively. The most common initial symptom was tremor (73.5%), followed by ataxia (18.4%). At presentation, 95.9% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7%). At presentation, 73.5% of patients had ataxia and 22.4% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 +/- 6.10 (40-72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 & 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat. Conclusion: SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non-Aggarwal families.","language":"eng","journal":"Tremor and other hyperkinetic movements (New York, N.Y.)","author":[{"propositions":[],"lastnames":["Ganaraja"],"firstnames":["Valakunja","Harikrishna"],"suffixes":[]},{"propositions":[],"lastnames":["Holla"],"firstnames":["Vikram","V."],"suffixes":[]},{"propositions":[],"lastnames":["Stezin"],"firstnames":["Albert"],"suffixes":[]},{"propositions":[],"lastnames":["Kamble"],"firstnames":["Nitish"],"suffixes":[]},{"propositions":[],"lastnames":["Yadav"],"firstnames":["Ravi"],"suffixes":[]},{"propositions":[],"lastnames":["Purushottam"],"firstnames":["Meera"],"suffixes":[]},{"propositions":[],"lastnames":["Jain"],"firstnames":["Sanjeev"],"suffixes":[]},{"propositions":[],"lastnames":["Pal"],"firstnames":["Pramod","Kumar"],"suffixes":[]}],"year":"2022","pmid":"35531119","pmcid":"PMC9029677","note":"Place: England","keywords":"*Spinocerebellar Ataxias/diagnostic imaging/genetics, *Tremor/diagnostic imaging/genetics, Ataxia, Cohort Studies, Female, Genetic Profile, Hospitals, Humans, Male, Nerve Tissue Proteins/genetics, Retrospective Studies, Spinocerebellar ataxia type 12, Tremors, Trinucleotide repeats","pages":"13","bibtex":"@article{ganaraja_clinical_2022,\n\ttitle = {Clinical, {Radiological}, and {Genetic} {Profile} of {Spinocerebellar} {Ataxia} 12: {A} {Hospital}-{Based} {Cohort} {Analysis}.},\n\tvolume = {12},\n\tcopyright = {Copyright: (c) 2022 The Author(s).},\n\tissn = {2160-8288},\n\tdoi = {10.5334/tohm.686},\n\tabstract = {Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied. Results: A total of 49 patients (34 males, 42 families) were included of which 79.6\\% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 +/- 11.7 years and 53.16 +/- 12.78 years respectively. The most common initial symptom was tremor (73.5\\%), followed by ataxia (18.4\\%). At presentation, 95.9\\% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7\\%). At presentation, 73.5\\% of patients had ataxia and 22.4\\% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 +/- 6.10 (40-72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 \\& 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat. Conclusion: SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non-Aggarwal families.},\n\tlanguage = {eng},\n\tjournal = {Tremor and other hyperkinetic movements (New York, N.Y.)},\n\tauthor = {Ganaraja, Valakunja Harikrishna and Holla, Vikram V. and Stezin, Albert and Kamble, Nitish and Yadav, Ravi and Purushottam, Meera and Jain, Sanjeev and Pal, Pramod Kumar},\n\tyear = {2022},\n\tpmid = {35531119},\n\tpmcid = {PMC9029677},\n\tnote = {Place: England},\n\tkeywords = {*Spinocerebellar Ataxias/diagnostic imaging/genetics, *Tremor/diagnostic imaging/genetics, Ataxia, Cohort Studies, Female, Genetic Profile, Hospitals, Humans, Male, Nerve Tissue Proteins/genetics, Retrospective Studies, Spinocerebellar ataxia type 12, Tremors, Trinucleotide repeats},\n\tpages = {13},\n}\n\n\n\n","author_short":["Ganaraja, V. H.","Holla, V. V.","Stezin, A.","Kamble, N.","Yadav, R.","Purushottam, M.","Jain, S.","Pal, P. 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