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Paraneoplastic neurological syndromes (PNS) are rare complications of cancer occurring in 0.01% of cases. Their clinical, biological and radiological presentation is heterogeneous and may constitute a diagnostic challenge. Anti-Ma2 PNS are rare diseases with a guarded prognosis. They are most often associated with a seminoma-like testicular tumor but can also be associated with lung cancer. Classically, they present as limbic, diencephalic and/or brainstem encephalitis. Anti-Ma2 antibodies target intracellular receptors and are characteristic of a particular form of encephalitis. Atypical manifestations including narcolepsy-cataplexy, weight gain, sexual dysfunction and motor neuron syndrome have been described and explain the difficulty in diagnosing anti-Ma2 associated PNS. It seems interesting to better characterize the phenotypes of Ma2 patients in order to optimize the diagnosis and follow-up.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patient with Ma2 antibody | This is a non-interventional study involving biological samples. Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL) (including tissue, cells or biological fluids). |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diagnosis test | Diagnostic Test | Tests can be used: immunofluorescence, immunodot, western blot, tests CBA on sera or CSF. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Rankin score | Follow up and survival (rankin score) | 12 month after diagnosis |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with anti-Ma2 paraneoplastic neurological syndromes with or without cancer
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes | Lyon | 69677 | France |
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| ID | Term |
|---|---|
| D020274 | Autoimmune Diseases of the Nervous System |
| D010257 | Paraneoplastic Syndromes |
| ID | Term |
|---|---|
| D009422 | Nervous System Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D009369 | Neoplasms |
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| ID | Term |
|---|---|
| D007159 | Immunologic Tests |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Sera, blood, DNA, CSF collected at diagnosis time
| D007158 | Immunologic Techniques |