Autoimmunity in Patients With GAD-Ab and Their Relatives
Клучни зборови
Апстракт
Опис
A group of poorly studied immune-mediated neurological syndromes are associated with antibodies against glutamic-acid decarboxylase (GAD-Ab). GAD is the rate-limiting enzyme for the synthesis of gamma aminobutyric acid (GABA) from glutamate and is expressed by inhibitory neurons of the central nervous system. Neurological syndromes with anti-GAD antibodies (GAD-Ab) are often non-paraneoplastic. They mainly include limbic encephalitis (LE), cerebellar ataxia (CA) and stiff-person syndrome (SPS). Although the pathogenic role of GAD-Ab is controversial, most patients have high serum levels and GAD-Ab are also detected in the cerebrospinal fluid (CSF) along with other inflammatory abnormalities such as oligoclonal bands. GAD-Ab may also be present in the serum of T1DM patients, as pancreatic beta cells also express GAD, but usually at much lower titers than those of neurological patients. Organ-specific autoimmune diseases, such as T1DM and autoimmune thyroid disease, are common among patients with GAD-Ab and neurological syndromes and in their relatives, suggesting a shared genetic predisposition to autoimmune disorders. This is also supported by family reports of neurological syndromes with GAD-Ab and some HLA associations described in SPS.
The aim of this study is to describe the different autoimmune organ-specific diseases present in patients with GAD-Ab and their relatives, along with to identify families with higher aggregation of autoimmune diseases and establish potential ways of inheritability.
Датуми
| Последен пат проверено: | 08/31/2019 |
| Прво доставено: | 09/23/2019 |
| Поднесено е проценето запишување: | 09/23/2019 |
| Прво објавено: | 09/25/2019 |
| Последното ажурирање е доставено: | 09/25/2019 |
| Последно ажурирање објавено: | 09/26/2019 |
| Крај на датумот на започнување на студијата: | 09/29/2019 |
| Проценет датум на примарно завршување: | 08/29/2020 |
| Проценет датум на завршување на студијата: | 09/29/2020 |
Состојба или болест
Фаза
Групи за раце
| Рака | Интервенција / третман |
|---|---|
| patients with neurological syndromes and GAD-Ab This is a non-interventional study involving clinical data already stored in the database of the Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes, or collected by the referral physicians the day of ordinary consultations. No biological sample is necessary to perform this study. |
Критериуми за подобност
| Возраст подобни за студии | 18 Years До 18 Years |
| Полови квалификувани за студии | All |
| Метод на земање примероци | Non-Probability Sample |
| Прифаќа здрави волонтери | Да |
| Критериуми | Inclusion Criteria: - Patient with a well-known neurological syndrome associated with Gad-Ab (LE, CA, SPS) - Patient with an CSF positive for GAD-Ab; - Patient witn an Age > 18 years old. Exclusion Criteria: - Patient with absence of complete clinical data. - Patient with CSF not tested or negative for GAD-Ab |
Исход
Мерки на примарниот исход
1. Autoimmune organ-specific diseases in patients with GAD-Ab and their relatives [12 Months]
Секундарни мерки на исходот
1. Inheritability in neurological syndromes with GAD-Ab [12 Months]
