Аtaxia with isolated vitamin Е deficiency: a case report

Medical review (Med. pregled), 2023, 59(1), 53-57.

S. Zhelyazkova^1,2, N. Ivanova³, K. Mihova³, R. Kaneva³, T. Chamova^1,2, S. Cherninkova^1,2, I. Tarnev^1,2,4

¹ Clinic of Nervous System Diseases, University Hospital “Alexandrovska” – Sofia
² Department of Neurology, Medical University – Sofia
³ Molecular Medicine Centre, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia
⁴ Department of Cognitive Science and Psychology, New Bulgarian University – Sofia

Abstract. autosomal-recessive cerebellar ataxia, vitamin E deficiency, mutation in the TTPA gene

Key words: cerebellar ataxia, neuropathy, vestibular areflexia, CANVAS syndrom

Address for correspondence: Dr. Sashka Zhelyazkova, e-mail: doc_sashka@abv.bg