Multimodal evoked potentials in spinocerebellar ataxia types 1, 2, and 3

Chandran, Vijay; Jhunjhunwala, Ketan; Purushottam, Meera; Jain, Sanjeev; Pal, Pramod Kumar

doi:10.4103/0972-2327.138519

Cited by 6 publications

(1 citation statement)

References 14 publications

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“…Median and tibial SSEPs were abnormal in all patients in our study in comparison with the control group with prolonged latencies and IPL, especially IPL 31-37 that denoted cortical and subcortical conduction delay along with diffuse conduction delay along the spinal cord. Median SSEPs were abnormal in 30.2% of 43 cases of spinocerebellar ataxia (SCA) patients in a study conducted by Chandran et al [ 15 ]. SSEPs were performed on the right median only, and thus such results could not be interpreted properly.…”

Section: Discussionmentioning

confidence: 99%

A Comparison Between Somatosensory Evoked Potentials and Spine MRI in the Diagnosis of Non-compressive Myelopathy: Which Is More Accurate?

Mohammed¹,

Hammady²,

Abbas³

2023

Cureus

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Introduction: Non-compressive myelopathy is a neurological disorder due to pathological processes affecting the spinal cord in the absence of clinical and radiological evidence of spinal cord compression. Two commonly used diagnostic tools for non-compressive myelopathy are somatosensory evoked potentials (SSEPs) and magnetic resonance imaging (MRI). SSEPs are a neurophysiological tool used to assess the functional integrity of the spinal cord. MRI, on the other hand, is the mainstay imaging modality used for identifying compressive lesions and other structural abnormalities in the spinal cord. The aim of this study was to test the diagnostic accuracy of SSEPs versus spine MRI in the diagnosis and assessment of the severity of non-compressive myelopathy using the Modified Japanese Orthopaedic Association (mJOA) clinical severity score.Methods: Our study included 63 subjects. Whole spine MRI and SSEPs (median and tibial SSEP bilaterally) were done for all subjects; their results were compared according to their relation to the mJOA score and classified into mild, moderate, and severe. The control group was examined to establish normative data for SSEP results and compared with cases. Blood investigations such as complete blood count, thyroid function test, A1C, HIV tests, venereal disease research laboratory test, erythrocyte sedimentation rate, C-reactive protein, and antinuclear antibody tests were done. Blood tests for vitamin B12 levels were done for patients who were suspected of sub-acute combined degeneration of the spinal cord; cerebrospinal fluid (CSF) analysis was done for patients suspected of multiple sclerosis (MS), acute transverse myelitis (ATM), or other inflammatory/infectious diseases. CSF was analyzed for cell count, cytology, protein, and oligoclonal bands (if indicated).Results: No mild categories were registered in this study; 30% of patients were moderate and 70% were severe. Causes for non-compressive myelopathy in this study were hereditary degenerative ataxias in 12 (38.71%), ATM in 8 (25.81%), and MS in 5 (16.13%); other causes included vitamin B12 deficiency in 2 (6.45%), ischemia in 2 (6.45%), and an unknown cause in 2 (6.45%). SSEPs showed abnormal results in all patients (31; 100%) whereas MRI showed abnormality in only seven patients (22.6%). SSEP sensitivity for detecting severe cases was around 63.6% while that for MRI was 27.3%. Conclusion:The study concluded that SSEPs were more reliable for the detection of non-compressive myelopathies rather than MRI and correlated better with clinical severity. Performing SSEPs is recommended for all patients with non-compressive myelopathy, especially those with negative imaging.

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Section: Discussionmentioning

confidence: 99%

A Comparison Between Somatosensory Evoked Potentials and Spine MRI in the Diagnosis of Non-compressive Myelopathy: Which Is More Accurate?

Mohammed¹,

Hammady²,

Abbas³

2023

Cureus

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Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias

Kumari

Kumar

Brahmachari

et al. 2018

J Genet

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Cerebellar ataxias are a group of rare progressive neurodegenerative disorders with an average prevalence ranges from 4.8 to 13.8 in 100,000 individuals. The inherited disorders affect multiple members of the families, or a community that is endogamous or consanguineous. Presence of more than 3000 mutations in different genes with overlapping clinical symptoms, genetic anticipation and pleiotropy, as well as incomplete penetrance and variable expressivity due to modifiers pose challenges in genotype-phenotype correlation. Development of a diagnostic algorithm could reduce the time as well as cost in clinicogenetic diagnostics and also help in reducing the economic and social burden of the disease. In a unique research collaboration spanning over 20 years, we have been able to develop a paradigm for studying cerebellar ataxias in the Indian population which would also be relevant in other rare diseases. This has involved clinical and genetic analysis of thousands of families from diverse Indian populations. The extensive resource on ataxia has led to the development of a clinicogenetic algorithm for cost-effective screening of ataxia and a unique ataxia clinic in the tertiary referral centre in All India Institute of Medical Sciences. Utilizing a population polymorphism scanning approach, we have been able to dissect the mechanisms of repeat instability and expansion in many ataxias, and also identify founders, and trace the mutational histories in the Indian population. This provides information for genetic testing of at-risk as well as protected individuals and populations. To dissect uncharacterized cases which comprises more than 50% of the cases, we have explored the potential of next-generation sequencing technologies coupled with the extensive resource of baseline data generated in-house and other public domains. We have also developed a repository of patient-derived peripheral blood mononuclear cells, lymphoblastoid cell lines and neuronal lineages (derived from iPSCs) for ascribing functionality to novel genes/mutations. Through integrating these technologies, novel genes have been identified that has broadened the diagnostic panel, increased the diagnostic yield to over 75%, helped in ascribing pathogenicity to novel mutations and enabled understanding of disease mechanisms. It has also provided a platform for testing novel molecules for amelioration of pathophysiological phenotypes. This review through a perspective on CAs suggests a generic paradigm fromdiagnostics to therapeutic interventions for rare disorders in the context of heterogeneous Indian populations.

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Somatosensory evoked potentials

Muzyka

Estephan

2019

Handbook of Clinical Neurology

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Multimodal evoked potentials in spinocerebellar ataxia types 1, 2, and 3

Cited by 6 publications

References 14 publications

A Comparison Between Somatosensory Evoked Potentials and Spine MRI in the Diagnosis of Non-compressive Myelopathy: Which Is More Accurate?

A Comparison Between Somatosensory Evoked Potentials and Spine MRI in the Diagnosis of Non-compressive Myelopathy: Which Is More Accurate?

Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias

Somatosensory evoked potentials

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