[A case of Seizure-related 6 homolog like 2 (Sez6l2) antibody-associated autoimmune cerebellar ataxia].
[A case of Seizure-related 6 homolog like 2 (Sez6l2) antibody-associated autoimmune cerebellar ataxia].
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Original abstract
A 35-year-old male patient had been repeatedly involved in car accidents since the age of 34 years, had difficulty in tidying his room, and developed speech and gait disorders. At the first examination, he had a hypophonia and poor gait, but he could talk and walk by himself. His Mini-Mental State Examination (MMSE) score was 23 and mild cognitive impairment was observed. Three months later, neurological findings showed subacute progression to loss of speech, and poor right dominant diadochokinesia and finger tapping, poor finger-nose test and heel-knee test, and loss of ability to stand and walk. Cerebellar atrophy was observed on head MRI, and the patient was positive for Seizure-related 6 homolog like 2 (Sez6l2) antibody, leading to a diagnosis of Sez6l2 antibody-associated autoimmune cerebellar ataxia. Immunotherapy halted the progression of symptoms, and the patient showed slight improvement. Sez6l2 antibody measurement and immunotherapy were considered necessary for subacute progressive cerebellar ataxia of unknown cause.