关键词: 小脑共济失调, 谷氨酸脱羧酶65, 抗体

Abstract:

Objective To investigate the clinical characteristics, diagnosis, treatment and prognosis of cerebellar ataxia associated with antibodies against glutamic acid decarboxylase 65 (GAD65). Methods Clinical data of a case of cerebellar ataxia associated with antibodies against GAD65 were analyzed. Clinical characteristics, diagnosis, treatment and prognosis of cerebellar ataxia associated with antibodies against GAD65 were summarized by searching clinical cases at home and abroad reported before December 2023 in online databases of Pubmed, China National Knowledge Infrastructure (CNKI), Wanfang Data Knowledge Service platform and Chinese Science and Technology Periodical Database (VIP) using the key words of “GAD65 antibody” and “cerebellar ataxia”. Results A 67-year-old male presented with weakness in both lower limbs slowly and gradually worsened, and finally he was unable to independently walk. Physical examination showed unclear articulation, level 5 muscle strength of both lower limbs, decreased tendon reflexes in lower limbs, bilateral limb ataxia, unable to walk in a straight line, positive Romberg signs, and positive Babiniski signs. Brain magnetic resonance imaging (MRI) suggested brain atrophy. A panel of 14 diagnostic serum markers of autoimmune cerebellar ataxia showed a weak positivity for GAD65 antibody (IgG 1:30). After hormonal shock therapy and oral immunotherapy, the patient presented an improved symptom of limb weakness, increased red cell count and hemoglobin, and decreased thyroid hormone. Thyroid peroxidase antibody was not significantly changed. Through literature review, 15 case reports and 6 articles reported 186 patients with cerebellar ataxia associated with antibodies against GAD65. The disease develops slowly and progressively. Gait ataxia is the typical clinical manifestation. Cerebellar ataxia associated with antibodies against GAD65 involves the brain stem, and may accompany other autoimmune diseases, but occasionally combines with tumors. Immune therapy is able to alleviate symptoms, and an early treatment provides more clinical benefits. Conclusion Cerebellar ataxia associated with antibodies against GAD65 is a rare type of cerebellar ataxia. Positive detection of GAD65 antibodies in cerebrospinal fluid (CSF) or serum is important for the diagnosis. At present, clinical treatment of cerebellar ataxia associated with antibodies against GAD65 has not yet reached a unified understanding, and immunotherapy can improve clinical symptoms.

Key words: cerebellar ataxia, GAD65, antibody