Single‐fiber electromyography shows terminal axon dysfunction in Miller Fisher syndrome: A case report

Lange, Dale J.; DeAngelis, Tracy M.; Sivak, Mark

doi:10.1002/mus.20544

Cited by 17 publications

(11 citation statements)

References 22 publications

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“…Such an effect was not seen in antibody‐negative cases, thus providing further evidence of anti‐GQ1b IgG antibody–related presynaptic dysfunction in MFS patients. Most recently, using abnormal single‐fiber electromyography of the extensor digitorium communis muscle of an MFS patient, findings further validated the previously mentioned electrophysiological studies 83…”

Section: Electrophysiological Aspectssupporting

confidence: 77%

Clinical and immunological spectrum of the Miller Fisher syndrome

2007

Muscle and Nerve

157

132

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The Miller Fisher syndrome (MFS), characterized by ataxia, areflexia, and ophthalmoplegia, was first recognized as a distinct clinical entity in 1956. MFS is mostly an acute, self-limiting condition, but there is anecdotal evidence of benefit with immunotherapy. Pathological data remain scarce. MFS can be associated with infectious, autoimmune, and neoplastic disorders. Radiological findings have suggested both central and peripheral involvement. The anti-GQ1b IgG antibody titer is most commonly elevated in MFS, but may also be increased in Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). Molecular mimicry, particularly in relation to antecedent Campylobacter jejuni and Hemophilus influenzae infections, is likely the predominant pathogenic mechanism, but the roles of other biological factors remain to be established. Recent studies have demonstrated the presence of neuromuscular transmission defects in association with anti-GQ1b IgG antibody, both in vitro and in vivo. Collective findings from clinical, radiological, immunological, and electrophysiological techniques have helped to define MFS, GBS, and BBE as major disorders within the proposed spectrum of anti-GQ1b IgG antibody syndrome.

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Section: Electrophysiological Aspectssupporting

confidence: 77%

Clinical and immunological spectrum of the Miller Fisher syndrome

2007

Muscle and Nerve

157

132

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“…Evidence for involvement of the neuromuscular junction in MFS is based on the presence of structural changes at the neuromuscular junction and electrophysiologic changes consistent with abnormal neuromuscular transmission. 23–26 Indeed, recent studies have demonstrated that the GQ1b antibody binds close to the neuromuscular junction in human extraocular muscles. 27 Experimental models suggest that injury to the neuromuscular junction occurs through activation of complement, which results in the formation and deposition of membrane attack complexes (C5b-9) in presynaptic motor nerve terminals.…”

Section: Discussionmentioning

confidence: 99%

Miller Fisher Syndrome Mimicking Ocular Myasthenia Gravis

Anthony¹,

Thurtell²,

Leigh³

2012

Optometry and Vision Science

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Purpose Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that commonly presents with diplopia following the acute onset of complete bilateral external ophthalmoplegia. Ophthalmoplegia is often accompanied by other neurological deficits such as ataxia and areflexia that characterize MFS. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in a majority of affected patients. We report a patient with MFS who presented with clinical signs suggestive of ocular myasthenia gravis, but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. Case Report An 81-year-old white man presented with an acute onset of diplopia following a mild gastrointestinal illness. Clinical examination revealed complete bilateral external ophthalmoplegia and left-sided ptosis. He developed more marked bilateral ptosis, left greater than right, with prolonged attempted upgaze. He was also noted to have a Cogan’s lid twitch. Same day evaluation by a neuro-ophthalmologist revealed mild left-sided facial and bilateral orbicularis oculi weakness. He had no limb ataxia, but exhibited a slightly wide-based gait with difficulty walking heel-to-toe. A provisional diagnosis of ocular myasthenia gravis was made and anticholinesterase inhibitor therapy was initiated. However, his symptoms did not improve and serological testing was positive for the anti-GQ1b IgG antibody, supporting a diagnosis of MFS. Conclusions Although the predominant ophthalmic feature of MFS is complete bilateral external ophthalmoplegia, it should be recognized that MFS has variable associations with lid and pupillary dysfunction. Such confounding neuro-ophthalmic features require a thorough history, neurological examination, neuroimaging, and serological testing for the anti-GQ1b antibody to arrive at a diagnosis of MFS.

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“…In mouse hemidiaphragm preparations treated with anti-GQ1b antibody-positive sera, a temporary increase in acetylcholine release at NMJ is observed [38], and anti-GQ1b antibodies cause structural and functional changes in the NMJ [39]. In humans, abnormalities and electrical “jitter”, a sign of instability of the neuromuscular junction, which improved with clinical recovery, have been demonstrated on electromyography [40]. …”

Section: Discussionmentioning

confidence: 99%

Ataxia, Ophthalmoplegia, and Areflexia: What Would You Think?

Karsan

Fletcher

Bódi

et al. 2012

Case Reports in Neurological Medicine

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We present here a case of carcinomatous meningitis presenting as Miller Fisher syndrome (MFS). There are four further cases described in the literature with evidence of tumour invasion within the central nervous system (CNS) shown either in cerebrospinal fluid examination or on histology. There are further five cases described in which an association between cancer and a Miller Fisher phenotype has been shown. Some of these have identified antiganglioside antibodies in the serum and, in one case, also showed antibodies deposited within the primary tumour itself. This raises a question as to whether there is a paraneoplastic form. It would be informative when further cases present in this way to histologically examine for malignant CNS invasion, and the presence of antiganglioside antibodies in both the malignant primary and areas of nervous system thought to be affected by MFS.

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Single‐fiber electromyography shows terminal axon dysfunction in Miller Fisher syndrome: A case report

Cited by 17 publications

References 22 publications

Clinical and immunological spectrum of the Miller Fisher syndrome

Clinical and immunological spectrum of the Miller Fisher syndrome

Miller Fisher Syndrome Mimicking Ocular Myasthenia Gravis

Ataxia, Ophthalmoplegia, and Areflexia: What Would You Think?

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