Session Information
Date: Wednesday, June 22, 2016
Session Title: Ataxia
Session Time: 12:00pm-1:30pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To study phenotype and Quality of life determinant in patients with SCA-12.
Background: Spinocerebellar ataxia type 12 (SCA-12) is an extremely rare autosomal dominant, polyglutamate neurodegenerative condition. The phenotype of SCA-12 patients has not been studied well. Hereby we present 10 cases of SCA-12 with emphasis upon clinical presentations.
Methods: Medical history, demographic data and detailed clinical presentation were studied. We administered International Co-operative Ataxia Rating Scale (ICARS), Mini Mental Status Examination (MMSE) and Neuropsychiatric Inventory (NPI) on all patients. Quality of Life (QoL) score was measured by Quality of Life in Essential Tremor Questionnaire (QUEST). Gait was assessed using Functional Gait Assessment (FGA). Dysarthria was assessed by a timed (10 sec.) speech task.
Results: The mean age of patients presented at the clinic was 59.5 ± 8.96 years with a mean age of onset of symptoms at 50.70 ± 9.31 years (disease duration was 8.80 ± 5.09 years). In 90% patients, tremor was presenting symptom. Action and postural tremor were present in all of them but rest tremor was present in 80 % patients. Dysarthria, gait ataxia, bradykinesia, hyper-reflexia and dystonia were present in 80%, 80%, 60%, 50 % and 20% patients respectively. None of the patients showed cognitive impairment with mean MMSE score (26.10 ± 1.73). Most of the patients showed psychiatric symptoms such as agitation (60%), irritability (50%), apathy (40%), and eating disorder (30%). The patients’ mean score of self-perception about overall health was 60 ± 20.95 and patients’ quality of life (QoL) score was 67.5 ± 20.85. Essential tremor was the initial diagnosis in half of the patients.
Conclusions: Majority of patients with SCA-12 present with action and postural tremor. In the course of disease they develop dysarthria, gait ataxia, bradykinesia and dystonia. Cognition was generally spared but psychiatric symptoms were common. Patients with SCA-12 are frequently misdiagnosed as Essential Tremor.
To cite this abstract in AMA style:
S. Chatterjee, R. Banerjee, B. Mondal, M.U. Kulsum, K. Chatterjee, S.S. Jha, P. Chatterjee, S. Choudhury, S.S. Anand, H. Kumar. A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/a-cross-sectional-study-in-spinocerebellar-ataxia-type-12-sca-12-patients-from-a-tertiary-care-center-in-eastern-india/. Accessed June 14, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/a-cross-sectional-study-in-spinocerebellar-ataxia-type-12-sca-12-patients-from-a-tertiary-care-center-in-eastern-india/