GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologies

Autor: Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke, T1D Exchange Biobank, Christiane S. Hampe
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Male
0301 basic medicine
Génétique clinique
endocrine system diseases
Glutamate decarboxylase
lcsh:Medicine
Autoimmunity
Pharmacologie
Pathogenesis
Epitopes
Epilepsy
0302 clinical medicine
immune system diseases
Protein Isoforms
Pharmacology (medical)
Autoimmune epilepsy
Genetics (clinical)
GAD65 enzyme activity
Aged
80 and over
Glutamate Decarboxylase
General Medicine
Middle Aged
Sciences bio-médicales et agricoles
Type 1 diabetes
Female
Stiff person syndrome
Adult
medicine.medical_specialty
Epitope mapping
Stiff-Person Syndrome
Meningioma
03 medical and health sciences
Internal medicine
medicine
Humans
Aged
Autoantibodies
business.industry
Research
lcsh:R
Autoantibody
nutritional and metabolic diseases
medicine.disease
GAD65Ab
Diabetes Mellitus
Type 1
030104 developmental biology
Etiology
business
030217 neurology & neurosurgery
Zdroj: Orphanet journal of rare diseases, 13 (1
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Popis: Background: Autoantibodies against the smaller isoform of glutamate decarboxylase (GAD65Ab) reflect autoimmune etiologies in Type 1 diabetes (T1D) and several neurological disorders, including Stiff Person Syndrome (SPS). GAD65Ab are also reported in cases of epilepsy, indicating an autoimmune component. GAD65Ab in patients with co-occurring T1D, epilepsy or SPS may be part of either autoimmune pathogenesis. To dissect the etiologies associated with GAD65Ab, we analyzed GAD65Ab titer, epitope specificity and enzyme inhibition in GAD65Ab-positive patients diagnosed with epilepsy (n = 28), patients with epilepsy and T1D (n = 10), patients with SPS (n = 20), and patients with T1D (n = 42). Results: GAD65Ab epitope pattern in epilepsy differed from T1D and SPS patients. Four of 10 patients with co-occurring T1D and epilepsy showed GAD65Ab profiles similar to T1D patients, while lacking GAD65Ab characteristics found in GAD65Ab-positive epilepsy patients. One of these patients responded well to anti-epileptic drugs (AEDs), while another patient did not require medication for seizure control. The third patient was refractory due to a diagnosis of meningioma. The response of the remaining patient to AEDs was unknown. GAD65Ab in the remaining six patients with T1D and epilepsy showed profiles similar to those in epilepsy patients. Conclusions: Different autoimmune responses associated with T1D, epilepsy and SPS are reflected by disease-specific GAD65Ab patterns. Moreover, the epileptic etiology in patients diagnosed with both T1D and epilepsy may present two different etiologies regarding their epileptic condition. In one group T1D co-occurs with non-autoimmune epilepsy. In the other group GAD65Ab are part of an autoimmune epileptic condition.
SCOPUS: ar.j
info:eu-repo/semantics/published
Databáze: OpenAIRE
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