Autoimmunity in Patients With GAD-Ab and Their Relatives
Ключевые слова
абстрактный
Описание
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.
Даты
| Последняя проверка: | 08/31/2019 |
| Первый отправленный: | 09/23/2019 |
| Предполагаемая регистрация отправлена: | 09/23/2019 |
| Первое сообщение: | 09/25/2019 |
| Последнее обновление отправлено: | 09/25/2019 |
| Последнее обновление опубликовано: | 09/26/2019 |
| Фактическая дата начала исследования: | 09/29/2019 |
| Предполагаемая дата завершения начальной школы: | 08/29/2020 |
| Предполагаемая дата завершения исследования: | 09/29/2020 |
Состояние или болезнь
Фаза
Группы рук
| Рука | Вмешательство / лечение |
|---|---|
| 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. |
Критерии приемлемости
| Возраст, имеющий право на обучение | 18 Years Чтобы 18 Years |
| Полы, имеющие право на обучение | All |
| Метод отбора проб | Non-Probability Sample |
| Принимает здоровых добровольцев | да |
| Критерии | 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 |
Результат
Основные показатели результатов
1. Autoimmune organ-specific diseases in patients with GAD-Ab and their relatives [12 Months]
Меры вторичного результата
1. Inheritability in neurological syndromes with GAD-Ab [12 Months]
