International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 4, Issue 5 | Research Article | Open Access DOI
Govind K Makharia, Achal Kumar Srivastava*
Kumari A1,6#, Singh I2#, Verma A1,3, Singh I1, Hooda U1, Faruq M4, Swarup V2, Garg A5, Ahuja V1, Makharia G1* and Srivastava A2*
1Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, India
2Neuroscience Centre, All India Institute of Medical Sciences, India
3Department of Pediatrics, Celiac Disease Research Laboratory, Università Politecnica delle Marche, Italy
4CSIR-Institutes of Genomics and Integrative Biology, India
5Department of Neuroradiology, All India Institute of Medical Sciences, India
6Department of Biochemistry, All India Institute of Medical Sciences, India
#Authors have equal contribution
*Correspondence to: Govind K Makharia, Achal Kumar Srivastava
Fulltext PDF1.1. Background: Cerebellar ataxia is a heterogeneous group of disorders which can be familial or sporadic. Sensitivity to gluten has been implicated in the pathogenesis of sporadic cerebellar ataxia. Since there is a paucity of data on prevalence of gluten sensitivity in ataxia patients from Asian countries, we screened well-characterized progressive cerebellar ataxia patients for the presence of gluten sensitivity.
1.2. Materials and Methods: A cohort of 192 familial and sporadic patients with progressive cerebellar ataxia, were screened for the presence of gluten sensitivity using anti-gliadin Ab IgA and IgG, Anti-Transglutaminase 2 Ab (TG2) and IgA Anti-Transglutaminase 6 Ab (TG6) ELISA kits. The data on their genetic testing for Spinocerebellar Ataxia (SCA) 1, 2, 3, 12, Friedreich's Ataxia (FRDA), and brain imaging were reviewed.
1.3. Results: Out of 192 patients, 110 and 82 had sporadic and familial cerebellar ataxia, respectively. Genetic mutation for SCA 1, 2, 3, 12 and FRDA was confirmed in 76 (40%) patients. Forty-Two (21.8%) patients had either one or more serological test positive for gluten sensitivity; IgA-AGA (20/192; 10.4%), IgG-AGA (2/87; 2.3%), Anti-TG2 Ab (1/141; 0.71%) and IgA Anti-TG6 Ab (23/186; 12.3%). 20 of 32 (63%) seropositive patients had cerebellar atrophy on brain imaging. None of 10 patients, who agreed to undergo duodenal biopsy examination, had evidence of celiac disease.
1.4. Conclusion: In conclusion, our study suggests that an ataxia syndrome related to gluten sensitivity may occur in a subgroup of patients and those antigliadin antibodies and anti-TG6 autoantibodies may be a marker for identifying gluten sensitive and diagnosing sporadic idiopathic ataxia.
Kumari A, Singh I, Verma A, Singh I, Hooda U, Makharia G, et al . Anti-Gliadin and Anti-Tissue Transglutaminase Antibodies in the Serum of Patients with Cerebellar Ataxia. Int Clinc Med Case Rep Jour. 2025;4(5):1-12.