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Clinical spectrum of glutamic acid decarboxylase antibodies in a Taiwanese population
Author(s) -
Kuo Y.C.,
Lin C.H.
Publication year - 2019
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14005
Subject(s) - medicine , stiff person syndrome , glutamate decarboxylase , gastroenterology , population , diabetes mellitus , pediatrics , cerebellar ataxia , epilepsy , autoantibody , ataxia , antibody , endocrinology , immunology , psychiatry , biochemistry , chemistry , environmental health , enzyme
Background and purpose High levels of autoantibodies against glutamic acid decarboxylase ( GAD ‐abs) are associated with stiff‐person syndrome ( SPS ). However, the full clinical spectrum associated with GAD ‐abs in Asians is unclear. The clinical and immunological features of patients positive for GAD ‐abs were reviewed in a large Taiwanese series. Methods Retrospective case series and immunological investigations were conducted between July 2007 and July 2017 at a tertiary referral centre in Taiwan. Amongst 361 patients with GAD ‐ab reactivity, 185 with detailed clinical records were included. Results Twenty‐seven patients (14.59%), with a mean age at assessment of 54.8 ± 13.9 years, presented with neurological symptoms. The major neurological presentations (mean GAD ‐ab concentrations) were SPS ( n  = 9, 33.3%; 135.45 ± 27.84 U/ml), cerebellar ataxia ( n  = 3, 11.1%; 95.61 ± 49.63 U/ml), encephalopathy ( n  = 2, 7.4%; 51.8 ± 49.64 U/ml) and epilepsy ( n  = 1, 3.7%; 83.3 U/ml). Notably, eight patients fulfilling the clinical diagnosis of multiple system atrophy had relatively lower GAD ‐ab concentrations (2.57 ± 0.82 U/ml), which has not been reported previously. There was no correlation between disease severity and GAD ‐ab concentration. Patients presenting with comorbid endocrinopathies ( n  = 15, 55.5%) had higher GAD ‐ab concentrations than those without endocrinopathies ( n  = 12, 44.4%; 104.45 ± 22.51 U/ml vs. 34.08 ± 21.83 U/ml, P  = 0.04). Of 158 patients (85.4%) without a neurological presentation, 133 had type 1 diabetes mellitus and 20 had diabetes of other aetiologies (type 2 or gestational diabetes mellitus, or diabetes secondary to pancreatitis); the remaining four patients had pure thyroid disorders. Conclusions A clinical and immunological evaluation of East Asian patients positive for GAD ‐abs is presented and a different clinical spectrum of anti‐ GAD syndrome is identified compared to Caucasians.

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