Complex regional pain syndrome is a severe complication following trauma that is associated with vasomotor, sudomotor and sensory disturbances in an affected limb or region of the body. The exact ...physiopathology is not fully understood yet. Recently, autoantibody findings suggested an immune‐mediated physiopathology of the disease. We here describe two otherwise treatment‐resistant patients with complex regional pain syndrome and high‐titre beta2 adrenergic receptor autoantibodies, who did respond to plasmapheresis. Both patients showed strong improvement of pain and autonomic symptoms measured by impairment level sum score.
Abstract Opsoclonus–myoclonus syndrome or Dancing Eye Syndrome (OMS/DES) is a rare neurological disorder of children, which associates with neuroblastoma (NB) in approximately 50% of cases. We ...examined sera from five patients with (OMS-NB+ ) and five without NB (OMS-NB− ) for autoantibodies. OMS-NB− IgG bound to the surface of a NB cell line, whereas IgG from OMS-NB+ and from NB patients without OMS/DES bound only to permeabilised cells. Both OMS-NB+ and OMS-NB- reduced proliferation of NB cells. We also present a case report of a child with OMS/DES without NB who made a complete recovery without treatment. Serum antibodies at presentation bound to the surface and decreased NB cell proliferation but had decreased 9 weeks later when the child was asymptomatic. These results demonstrate that sera from some OMS/DES patients contain IgG antibodies that are potentially pathogenic.
Background: Early occurrence of small‐fibre neuropathy (SFN) is a common feature of Fabry disease (FD) – an X‐linked storage disorder caused by reduced activity of the α‐galactosidase A (α‐GAL). ...Although SFN may result from different disorders, the cause is often unclear. Therefore, we investigated the frequency of FD in patients with SFN of unknown aetiology.
Methods: Patients with idiopathic SFN, established by sensory quantitative testing and/or skin biopsy, were examined for mutations in the α‐GAL gene. Where mutations in the α‐GAL gene were identified, levels of globotriaosylceramide (Gb3) were measured in urine and blood and the α‐GAL activity was evaluated. When new mutations were detected, a diagnostic work‐up was performed as well as a Gb3 accumulation in the skin, lyso‐Gb3 in blood and Gb3_24 in urine were proved.
Results: Twenty‐four of 29 eligible patients were enrolled in the study. Mutations in the α‐GAL gene were observed in five patients. A typical mutation for FD (c.424T>C, C142R) was detected in one patient. In four patients, a complex intronic haplotype within the α‐GAL gene (IVS0‐10C>T rs2071225, IVS4‐16A>G rs2071397, IVS6‐22C>T rs2071228) was identified. The relevance of this haplotype in the pathogenesis of FD remains unclear until now. However, these patients showed increased concentrations of Gb3 and/or lyso‐Gb3, while no further manifestations for FD could be proved.
Conclusions: Fabry disease should be considered in patients with SFN of unknown aetiology, and screening for FD should be included in the diagnostic guidelines for SFN. The significance of the intronic haplotype regarding SFN needs further evaluation.
Abstract Anti-SOX1 antibodies have been described to be positive in patients with paraneoplastic Lambert–Eaton myasthenic syndrome and, in a lower amount, in patients with anti-Hu positive ...paraneoplastic neurological syndromes, and with SCLC alone, respectively. We found 5/32 patients with paraneoplastic neuropathy and, surprisingly, 4/22 patients with neuropathy of unknown origin positive for anti-SOX1 antibodies, whereas no patient with inflammatory neuropathy and no healthy controls showed any reactivity (p = 0.007). All patients with neuropathy of unknown origin where followed up for four years without diagnosis of a tumour so far. Anti-SOX1 antibodies are associated with paraneoplastic neuropathies and may define another group of non-paraneoplastic, immune-mediated neuropathies.
Sera of 12 patients with complex regional pain syndrome (CRPS) were tested for the occurrence of autoantibodies against nervous system structures. Immunohistochemistry revealed autoantibodies against ...autonomic nervous system structures in 5 of 12 (41.6%) of the patients. Western blot analysis showed neuronal reactivity in 11 of 12 (91.6%) patients. The authors hypothesize that CRPS can result from an autoimmune process against the sympathetic nervous system.
Autoimmunity in Complex-Regional Pain Syndrome BLAES, F.; TSCHERNATSCH, M.; BRAEU, M. E. ...
Annals of the New York Academy of Sciences,
June 2007, Letnik:
1107, Številka:
1
Journal Article
Recenzirano
: Complex regional pain syndrome (CRPS) is an etiologically unclear syndrome with the main symptoms being pain, trophic and autonomic disturbances, and functional impairment that develops after limb ...trauma or operation and is located at the distal site of the affected limb. Because autoantibodies against nervous system structures have been described in these patients, an autoimmune etiology of CRPS is discussed. These autoantibodies bind to the surface of peripheral autonomic neurons. Using a competitive binding assay, it can be shown that at least some of the CRPS sera bind to the same neuronal epitope. Autoimmune etiology of CRPS is a new pathophysiological concept and may have severe impact on the treatment of this often chronic disease.
Abstract Childhood opsoclonus-myoclonus syndrome (OMS) occurs idiopathic or, in association with a neuroblastoma, as a paraneoplastic syndrome. Since autoantibodies were identified in some patients, ...an autoimmune pathogenesis has been suspected. While the newly discovered B-cell activating factors BAFF and APRIL are involved in systemic autoimmune diseases, their association with neuroimmunological diseases is hardly understood. We here investigated the BAFF and APRIL levels in serum and cerebrospinal fluid (CSF) of OMS patients and their correlation with surface-binding autoantibodies. BAFF and APRIL were both determined by ELISA, and autoantibodies to cerebellar granular neurons (CGN) have been investigated by flow cytometry in 17 OMS patients, 16 neuroblastoma (NB) patients, 13 controls and 11 children with inflammatory neurological diseases (IND). BAFF, but no APRIL, was elevated in the CSF of OMS children and IND children. However, in contrast to IND patients, OMS patients did not have a blood–brain-barrier disturbance, indicating that BAFF was produced intrathecally in OMS patients, but not in IND patients. CSF BAFF levels showed a correlation with CSF CGN autoantibodies ( r2 = 0.58, p < 0.05). These data indicate that an activated B-cell system in the cerebrospinal fluid is involved in the pathogenesis of OMS, and BAFF may be a candidate parameter for the activation of B-cell immune system.
