Serum IgG antibody to ganglioside GQ1b is a possible marker of Miller Fisher syndrome.

We studied serum anti-glycolipid antibodies by enzyme-linked immunosorbent assay and thin-layer chromatography-enzyme immunoassay in six consecutive patients with typical Miller Fisher syndrome. In all six, increased activity of IgG antibody against ganglioside GQ1b was present in the early phase and reduced with time, whereas such activity was not detected in normal control subjects and disease control subjects including those with Guillain-Barré syndrome. Anti-GQ1b IgG antibody is a new possible diagnostic marker of Miller Fisher syndrome and could well be related to the disease process itself.     

Atypical Miller Fisher syndrome with GQ1b antibodies

An atypical case of Miller Fisher syndrome is described in a patient with ophthalmoplegia and mild ataxia but no areflexia. High titres of acute phase antibodies to gangliosides asialo-GM1 and GQ1b were detected. Asialo-GM1 antibodies have not been previously reported in association with Miller Fisher syndrome. Considerable clinical recovery occurred in association with reduction in the ganglioside antibody titres. Ganglioside antibody assays may be helpful in the diagnosis of atypical cases of Miller Fisher syndrome. Detailed clinical, radiological and laboratory evaluation of suspected cases is warranted to improve our understanding of Miller Fisher syndrome. Such studies and the correlation with ganglioside antibody titres will also provide insights into the relationship between the classical and atypical cases of Miller Fisher syndrome, Guillain-Barré syndrome and Bickerstaff's brain stem encephalitis.     

Palatal insufficiency as isolated sign of GQ1b antibody syndrome

Antiganglioside GQ1b antibodies mediate a continuum of disorders with overlapping features, fostering the concept of anti-GQ1b antibody syndrome. We present a patient whose palatal insufficiency was the only clinical sign of postinfectious GQ1b antibody syndrome. Cerebral magnetic resonance imaging confirmed involvement of the glossopharyngeal nerve and vagus nerve bilaterally, revealing gadolinium enhancement of both nerves bilaterally and thickening of the left nervus vagus. Magnetic resonance imaging may help in diagnosing postinfectious GQ1b antibody syndrome, especially at early stages and in monosymptomatic patients. Early diagnosis may lead to early therapy, resulting in a milder disease course by preventing further deterioration leading to the ataxia and ophthalmoplegia usually observed in patients with postinfectious GQ1b antibody syndrome.     

Miller Fisher syndrome is associated with serum antibodies to GQ1b ganglioside.

A recent report described serum anti-GQ1b ganglioside antibodies in Miller Fisher syndrome (MFS), a clinical variant of Guillain-Barré syndrome (GBS). Four consecutive cases of MFS all had high titre anti-GQ1b antibodies which were absent from all control sera including those of patients with GBS.     

Fisher syndrome with tetraparesis and antibody to GQ1b: evidence for motor nerve terminal block.

A Fisher syndrome (FS) patient with antibody to tetrasyaloganglioside GQ1b (GQ1b) developed late limb weakness. Serial motor conduction velocities (MCVs) showed a marked reduction of distal compound muscle action potential (CMAP) amplitudes, worse at 2-3 weeks, followed by a dramatic increase in week 5. Motor conduction velocities were always in the normal range, distal motor latencies changed only slightly, and conduction block in intermediate nerve segments was absent. These electrophysiological data might suggest an axonal neuropathy or a distal demyelinating conduction block. However, the dramatic increase of distal CMAP amplitudes over a short time without significant changes of distal motor latencies, CMAP duration, and morphology indicate that weakness in this FS patient might be due to a block of acetylcholine release from motor terminals, possibly mediated by anti-GQ1b antibodies.     

格林—巴利综合征患者血清中的抗糖脂抗体

采用固相酶联免疫吸附法对３５例急性期格林－巴利综合征（ＧＢＳ）患者、２８例其他神经系统疾病患者和３０例健康体检者的血清中抗硫脂抗体，抗ＧＱ１ｂ及抗ＧＭ１抗体进行检测。结果：ＧＢＳ患者血清中抗硫脂ＩｇＭ抗体、抗ＧＱ１ｂＩｇＧ抗体和抗ＧＭ１ＩｇＧ抗体阳性率分别为３４％、１１％和３１％，均显著高于正常对照组。５６％的抗硫脂抗体阳性患者均有不同程度感觉障碍，而抗硫脂抗体阴性患者仅１６％（Ｐ＜０．０５）。５例有眼肌运动障碍的ＧＢＳ患者中，４例抗ＧＱ１ｂＩｇＧ抗体阳性，无眼肌麻痹的ＧＢＳ患者无１例抗ＧＱ１ｂ抗体阳性。提示不同的抗糖脂抗体可能在ＧＢＳ发病过程中起不同的作用。     

The Marin-Amat syndrome: an unusual facial synkinesia.

Three cases of facial nerve palsy with abnormal synkinetic movement manifesting with eye closure on jaw opening (Marin-Amat Syndrome) are described. The eye closure occurred only with wide jaw opening and it is felt that the disorder represents aberrant regeneration within the facial nerve with proprioceptive impulses associated with muscle stretch acting as the trigger. Though the movement is the exact opposite of what happens in the Marcus-Gunn phenomenon it is suggested that the term inverse Marcus-Gunn phenomenon be reserved for a congenital lesion with a different pathogenesis.     

Anti-GQ1b IgG antibody syndrome: clinical and immunological range

OBJECTIVES: To clarify the nosological relation among Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) with ophthalmoplegia, Bickerstaff's brain stem encephalitis (BBE), and acute ophthalmoparesis without ataxia. Serum samples from patients with each condition often have anti-GQ1b IgG antibody. METHODS: Information on antecedent illness, initial symptoms, neurological signs during the illness, and CSF findings were reviewed in 194 patients with anti-GQ1b IgG. It was determined whether overlapping MFS and GBS (MFS/GBS), as well as overlapping BBE and GBS (BBE/GBS), is explained by the combined action of anti-GQ1b IgG and anti-GM1 or anti-GD1a IgG, serological markers of GBS. RESULTS: Based on the diagnostic criteria, all the patients with acute ophthalmoparesis, MFS, MFS/GBS, BBE/GBS, and BBE had external ophthalmoplegia; all the patients with MFS, MFS/GBS, or GBS had hyporeflexia or areflexia; and all those with MFS and BBE showed ataxia. Tendon reflexes were decreased or absent in 91% of those with BBE/GBS, 67% of those with BBE, and 53% of those with acute ophthalmoparesis. Ataxia was present in 68% of the patients with MFS/GBS and 45% of those with BBE/GBS. Antecedent illness caused by upper respiratory tract infection had occurred in 60% to 80% of these patients, and CSF albuminocytological dissociation in 25% to 75%. Anti-GM1 or anti-GD1a IgG was present in 50% of those with GBS, 35% of those with MFS/GBS, 27% of those with BBE/GBS, 16% of those with MFS, and 8% of those with BBE. CONCLUSIONS: These findings together with the common autoantibody (anti-GQ1b IgG) suggest that a common autoimmune mechanism functions in the pathogenesis of these illnesses. In a larger study, it was confirmed clinically that MFS, GBS, BBE, and acute ophthalmoparesis are closely related, forming a continuous range. This is supported by the immunological findings. The term "anti-GQ1b IgG antibody syndrome" is not intended to be used as a clinical diagnosis, but recognition of this syndrome is useful for understanding the aetiological relation among the various illnesses and for introducing the established treatments of GBS for use with other conditions.     

Optic neuritis and palatal dysarthria as presenting features of post-infectious GQ1b antibody syndrome

A 31-year-old man had optic neuritis 2 weeks after a diarrheal illness, followed by several deficits including palatal dysarthria, diplopia, ataxia, sensory dysfunction, and mild dysautonomia. Brain MRI and CSF were normal. Nerve conduction studies were initially normal and subsequently showed mild reduction in sensory amplitudes. Anti-GQ1b IgG titer was positive. Deficits resolved after treatment with IVIg. This clinical constellation represents an overlap between Miller Fisher syndrome (MFS) and the pharyngeal–cervical–brachial (PCB) variant of Guillain-Barre syndrome (GBS), along with the infrequently reported central feature of optic neuritis. Campylobacter jejuni enteritis may have triggered the syndrome by molecular mimicry. GQ1b antibodies are associated with MFS, GBS, Bickerstaff brainstem encephalitis and PCB; they form an overlapping spectrum of features, hence the anti-GQ1b syndrome.     

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome

Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . This report suggests that a diagnosis of Inv-Dup (15) can be suspected during more benign atypical condition with a better outcome than usually reported.     

An unusual disease presenting at an unusual age: Susac's syndrome.

Susac's syndrome is a rare disease of unknown aetiology affecting the small vessels of the retina, brain, and cochlea. We present the case of a 55-year-old female, the oldest patient yet described with the condition, and highlight the syndrome's clinical features.     

Molecular mimicry between GQ1b ganglioside and lipopolysaccharides of Campylobacter jejuni isolated from patients with Fisher's syndrome

We isolated Campylobacter jejuni from 2 patients with Fisher's syndrome subsequent to enteritis. Crude lipopolysaccharide fractions were extracted from the bacteria and separated by thin-layer chromatography. Monoclonal antibodies to GQ_1b ganglioside (GMR 13 and 7F5) reacted with both lipopolysaccharide fractions, indicating that the lipopolysaccharides bear the GQ_1b epitope. This is the first report of molecular mimicry between neural tissue components and the antecedent infectious agents of Fisher's syndrome.     

Subacute encephalopathy with seizures in alcoholics (SESA syndrome): report of an unusual case.

Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare neurologic disorder complicating the chronic abuse of alcohol. This acute or subacute condition is characterized by transient neurologic deficits, seizures and severe lateralized abnormalities on the electroencephalogram (EEG). Our case demonstrates that in SESA syndrome, convulsive (generalized tonic-clonic) and nonconvulsive (complex partial) seizures may coexist.     

GQ1b-seronegative Fisher syndrome: clinical features and new serological markers

IgG anti-GQ1b antibodies are a powerful serological marker for the diagnosis of Fisher syndrome (FS), but little is known regarding serological markers in FS patients that do not have the autoantibodies. The authors analyzed IgG antibodies against gangliosides other than GQ1b, ganglioside complexes, and ganglioside-like lipo-oligosaccharide (LOS) of Campylobacter jejuni isolates from FS patients. We identified 24 (12%) patients with GQ1b-seronegative FS among 207 FS patients who had been referred to our laboratory for anti-ganglioside antibody testing. Patients with GQ1b-seronegative FS were male and had a history of antecedent gastrointestinal illness more frequently than FS patients with IgG anti-GQ1b antibodies. Other clinical features during the illness were not distinguishing for GQ1b-seronegative FS. Four (17%) of 24 patients with GQ1b-seronegative FS had IgG antibodies against single gangliosides such as GM1b, GD1a, or GT1a. Antibodies against GM1 and GT1a complex were detected in four GQ1b-seronegative FS patients, three of whom did not have antibodies against single gangliosides. Mass spectrometry analysis showed that C. jejuni isolates from FS patients had GD1c-, GalNAc-GM1b-, or GalNAc-GD1c-like LOS, and not GQ1b-like LOS, highlighting the utility of examining serum antibodies against these ganglioside mimics in GQ1b-seronegative FS patients. Seven (29%) had IgG antibodies against the LOS from C. jejuni strains expressing GD1c-, GalNAc-GM1b-, or GalNAc-GD1c-like LOS. These findings suggest that IgG antibodies against GM1b, GD1c, GalNAc-GM1b, and ganglioside complexes are serological markers for GQ1b-seronegative Fisher syndrome.     

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.

Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A-->G and 1172T-->C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.