Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with stiff-person syndrome and insulin-dependent diabetes mellitus with anti-glutamic acid decarboxylase (GAD) antibody, who suddenly complained of diplopia due to dysthyroid ophthalmopathy. Therapeutic efficacy of plasmapheresis and high-dose intravenous immunoglobulin was transient. After starting administration of rituximab, the patient showed obvious improvement of muscle spasms due to stiff-person syndrome and ophthalmoplegia following quick depletion of CD20-positive cells in peripheral blood. The anti-GAD and anti-thyroid antibodies decreased slowly. This drug might be a potent therapeutic option for refractory patients with stiff-person syndrome, particularly in those associated with dysthyroid ophthalmopathy.
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PMID:Successful treatment with rituximab in a patient with stiff-person syndrome complicated by dysthyroid ophthalmopathy. 2011 2

A 40-year-old man presented with respiratory compromise and was intubated. After tracheostomy, he was found to have ophthalmoplegia, severe limb rigidity, stimulus-sensitive myoclonus and autonomic dysfunction. For 1 week before admission, there had been a prodromal illness with low mood, hallucinations and limb myoclonus. Serum glycine receptor antibodies were strongly positive: we diagnosed progressive encephalomyelitis with rigidity and myoclonus. Despite a relapse, he has done well following immunotherapies. The clinical syndrome of encephalomyelitis with rigidity, described in 1976, often has a severe progressive course. A minority of patients have glutamic acid decarboxylase antibodies. The association with glycine receptor antibody was first reported in 2008, and we briefly review subsequent case reports to illustrate the range of clinical features. The antibody is likely to be disease mediating, although this remains unproven. The spectrum of diagnosable and treatable antibody mediated neurological syndromes is expanding. It is vital to recognise these conditions early to reduce morbidity and mortality.
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PMID:Glycine receptor antibody mediated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM): a rare but treatable neurological syndrome. 2356 94

Miller-Fisher syndrome (MFS) is considered as a variant of the Guillain-Barre syndrome (GBS) and its characteristic clinical features are ophthalmoplegia, ataxia, and areflexia. Typically, it is associated with anti-GQ1b antibodies; however, a significant percentage (>10%) of these patients are seronegative. Here, we report a 67-year-old female patient who presented with the typical clinical features of MFS. Workup revealed antibodies against glutamic acid decarboxylase (GAD) in relatively high titers while GQ1b antibodies were negative. Neurological improvement was observed after intravenous gamma globulin and follow-up examinations showed a continuous clinical amelioration with simultaneous decline of anti-GAD levels which finally returned to normal values. This case indicates that anti-GAD antibodies may be associated with a broader clinical spectrum and future studies in GQ1b-seronegative patients could determine ultimately their clinical and pathogenetic significance in this syndrome.
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PMID:Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology? 2723 55

We herein report the case of a 53-year-old man with cerebellar ataxia with anti-glutamic acid decarboxylase antibody (GAD-Ab) who mimicked Miller Fisher syndrome (MFS). He developed ophthalmoplegia, diplopia, and gait ataxia for one week. The serum and cerebrospinal fluid GAD-Ab titers were greatly increased, and the GAD-Ab index suggesting intrathecal antibody synthesis was elevated, while GQ1b-Ab was negative. After steroid pulse therapy and following prednisolone, his symptoms dramatically improved over the course of 11 months with the simultaneous decline of GAD-Ab titers. This case indicates that cerebellar ataxia with GAD-Ab can present with acute neurological findings mimicking MFS, and that steroid therapy has an excellent therapeutic effect.
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PMID:Acute Cerebellar Ataxia Associated with Anti-glutamic Acid Decarboxylase Antibodies Mimicking Miller Fisher Syndrome. 2909 2

Bickerstaff brainstem encephalitis (BBE) is a rare inflammatory demyelinating condition, which is similar to Miller-Fisher syndrome (MFS). Ophthalmoplegia and ataxia are common to these syndromes but unlike MFS, BBE is also characterised by central nervous system involvement, most commonly in the form of altered consciousness. BBE usually has a very good prognosis. We present a case of a young female with BBE. Unlike the majority of BBE patients, she (1) was negative for anti-GBQ1b antibodies but positive for glutamic acid decarboxylase (GAD) antibodies and borderline positive for voltage-gated calcium channel antibodies and (2) had a delayed recovery post treatment with intravenous immunoglobulins and plasma exchange. We contemplate a potential role for GAD antibodies as a marker for longer recovery time in patients with BBE.
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PMID:Case of Bickerstaff encephalitis with positive glutamic acid decarboxylase antibodies. 3260 Nov 40