An anti-GAD autoantibody-associated cerebellar syndrome case: a curable cause of ataxia

Autoimmune cerebellar ataxia with initial seronegativity and low‐titer anti‐glutamic acid decarboxylase antibody in the cerebrospinal fluid

“…This should be emphasized again, considering that the present case was a young male patient aged in his 30s: this was remote from the typical patients’ background in which most of the patients with AGCA are female aged in their 50s to 60s, and the clinical course is in many cases chronic . Some of the AGCA patients are reported to be responsive to immunotherapy, including steroids and the present case also showed a sustained effect of steroid and/or intravenous immunoglobulin treatment that lasted for approximately 1 year. In addition, the AGCA is a disease with possibly reversible symptoms, if treated promptly.…”

“…In most of the earlier cases with low‐titer AGCA, the GAD‐Ab was found in the serum, and its titer value was higher than that in the CSF . This seems to suggest that the additional antibody screening in the CSF might not always be required.…”

“…Anti‐glutamic acid decarboxylase antibody (GAD‐Ab) is detected in some patients with cerebellar ataxia; however, its pathophysiological mechanism has not yet been clarified. Although most cases with GAD‐Ab‐positive cerebellar ataxia (AGCA) show a very high titer of GAD‐Ab, a few cases of cerebellar ataxia with very low‐titer GAD‐Ab have been reported: in these cases, the antibody was detected predominantly in the serum, rather than in the cerebrospinal fluid (CSF) . Here, we describe a case presenting with subacute low‐titer AGCA in which the GAD‐Ab was initially absent in the serum, but present in the CSF, and showed elevation in the serum in a delayed manner.…”

Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

“… 94 Sialoidoses Neuraminidase deficiency caused by a mutation in the neuraminidase gene ( NEU ), located on 6p21.33, cerebellar ataxia, myoclonic epilepsy, myoclonus, macular cherry-red spots, onset from childhood to young adulthood 95 Gaucher disease GBA gene mutation, hereditary glucocerebrosidase deficiency, type I (non-neuropathic) – hepatosplenomegaly, type II (acute infantile neuropathic) – hepatosplenomegaly and neurological symptoms: eye movement disorders, spasticity, seizures, limb rigidity, typically begins within 6 months of birth, type III (chronic neuropathic) – onset in childhood or even in adulthood, similar to type II but milder symptoms 96 Progressive myoclonus epilepsies Leigh syndrome Different inheritance patterns, genes contained in nuclear DNA or genes contained in mitochondrial DNA, mitochondrial syndrome, optic atrophy, ataxia, and dystonia, later epilepsy 27 MERRF Mutation in the MT-TK gene of mitochondrial DNA, progressive course with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness (myopathy), and dementia 97 Unverricht-Lundborg disease CSTB gene mutation, progressive myoclonus epilepsy, ataxia is an additional symptom 98 Action myoclonus-renal failure syndrome SCARB2 gene mutation, 99 progressive myoclonus epilepsy associated with renal dysfunction, severe progressive action myoclonus, dysarthria, ataxia, and later infrequent generalized seizures in 2nd or 3rd decade 26 May and White syndrome Mitochondrial disorder, ataxia, severe action myoclonus, dysarthria, generalized seizures. 100 Immune-mediated conditions Cerebellar ataxia and epilepsy with anti-GAD antibodies Adult-onset cerebellar syndrome, ataxia and stiffness, incontinence, retinal pathologies, seizures, and immunological co-morbidities 40 Celiac disease Neurological symptoms in up to 10% of cases, gastrointestinal symptoms preceding years of neurological symptoms, ataxia, myoclonus, tremor, seizu...…”

Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies

“…The patients in this study had high titers, reinforcing the immune-mediated mechanism 1,6 . Despite the absence of randomized controlled studies, immunotherapy regimens such as glucocorticoid, intravenous immunoglobulin, plasma exchange, and immunosuppressive agents in varying combinations are the mainstay of the treatment 7,13,25,28,29,30 . The response to treatment is variable, with complete remission being rare.…”