Longitudinally extensive transverse myelitis associated with amphiphysin autoimmunity and breast cancer: a paraneoplastic accompaniment

Galassi, Giuliana; Ariatti, Alessandra; Rovati, Raffaella; Genovese, Maurilio; Rivasi, Francesco

doi:10.1007/s13760-015-0534-9

Cited by 5 publications

(4 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…De Camilli et al 2 for the first time reported the association of these antibodies with stiff person syndrome in a woman with breast cancer. Further studies reported the association of these antibodies with other paraneoplastic onconeural antibodies (anti-Yo, anti-Ma2, anti-VGCC), spectrum of paraneoplastic neurological disorders such as limbic encephalitis, rhombencephalitis, subacute sensory neuropathy, transverse myelitis, and Lambert-Eaton myasthenic syndrome 3,4. Isolated antiamphiphysin antibodies are seen in association with small cell lung carcinoma and breast cancer 5.…”

mentioning

confidence: 95%

“…Further studies reported the association of these antibodies with other paraneoplastic onconeural antibodies (anti-Yo, anti-Ma2, anti-VGCC), spectrum of paraneoplastic neurological disorders such as limbic encephalitis, rhombencephalitis, subacute sensory neuropathy, transverse myelitis, and Lambert-Eaton myasthenic syndrome. 3,4 Isolated antiamphiphysin antibodies are seen in association with small cell lung carcinoma and breast cancer. 5 Extragonadal germ cell tumors are less commonly seen accounting for 2% to 5% of all germ cell tumors and arise from ectopic germ cell precursor cells that fail to complete normal embryogenic migration.…”

mentioning

confidence: 99%

See 1 more Smart Citation

18F-FDG PET/CT Findings in a Rare Case of Paraneoplastic Vestibulocerebellar Syndrome Associated With Isolated Antiamphiphysin Antibodies

Komandla

Kousik

Milap³

et al. 2021

Clin Nucl Med

View full text Add to dashboard Cite

Paraneoplastic cerebellar degeneration (PCD) is an immune-mediated neurological disease characterized by adaptive immune response against onconeural antigens physiologically expressed in the cerebellum. It is characterized by presence of highly specific onconeural autoantibodies such as anti-Yo, anti-Hu, anti-Ri, and anti-Ma2 in the serum and cerebrospinal fluid as diagnostic biomarkers. Antiamphiphysin autoantibodyrelated paraneoplastic encephalitis is a less commonly seen autoimmune neurological disorder usually presenting as stiff person syndrome. We present an unusual case of isolated antiamphiphysin antibody-related PCD presenting as vestibulocerebellar syndrome with associated sensorineural hearing loss and sensory neuropathy. FDG PET helped in topographical localization of brain lesion along with early detection of extragonadal germ cell tumor in the retroperitoneum.

show abstract

mentioning

confidence: 95%

mentioning

confidence: 99%

18F-FDG PET/CT Findings in a Rare Case of Paraneoplastic Vestibulocerebellar Syndrome Associated With Isolated Antiamphiphysin Antibodies

Komandla

Kousik

Milap³

et al. 2021

Clin Nucl Med

View full text Add to dashboard Cite

show abstract

“…Similarly, Galassi et al. reported longitudinally extensive transverse myelitis (LETM) in a 40-year-old woman with amphiphysin antibody positivity ( 22 ). A study also demonstrated post-mortem histopathological evidence of the presence of CD8+ T cell-mediated immune responses in the spinal cord and dorsal root ganglia ( 17 ), confirming the involvement of the spinal cord.…”

Section: Discussionmentioning

confidence: 86%

Anti-amphiphysin encephalitis: Expanding the clinical spectrum

et al. 2023

View full text Add to dashboard Cite

ObjectiveAn analysis of the clinical features of autoimmune encephalitis accompanied by anti-amphiphysin antibodies.MethodsThe data of encephalitis patients with anti-amphiphysin antibodies were retrospectively evaluated, including demographics, neurological and laboratory findings, imaging, treatment, and prognostic predictions.ResultsTen patients aged between 29 and 78 years (median age 52 years) were included. The male: female ratio was 4:6. Limbic encephalitis was found in nine patients while epileptic seizures were present in seven patients. All patients showed anti-amphiphysin antibody positivity in sera while one ninth was positive for CSF antibody. The EEG findings were abnormal, including reductions in background activity, and the presence of diffuse slow waves, sharp waves, and spikes and waves. Five patients showed signs of increased T2 signals in the medial temporal lobe on MRI while PET showed either hyper- or hypo-metabolic changes in several brain regions, including the temporal lobe, hippocampus, basal ganglia, frontal and parietal cortices. Nine of ten patients were treated with immunotherapy, with improvements of varying degrees. There was a significant reduction in seizure frequency, and all patients were seizure-free at last follow-up.ConclusionAutoimmune encephalitis with anti-amphiphysin antibodies has a variety of clinical manifestations. The most common symptom is limbic encephalitis. Although relief from seizures can be achieved relatively easily, many patients suffer psychiatric, cognitive, and sleep sequelae. The disease was found to be associated with a lower incidence of cancer than has been previously reported for paraneoplastic neurologic syndromes.

show abstract

“…109,119 Amphiphysin is more frequently paraneoplastic and associated with breast carcinoma and SCLC, and can also cause myelopathy, encephalopathy, cerebellar dysfunction, autonomic dysfunction, and neuropathy. 102,120,121 DPPX is a cell surface antibody associated with a wide spectrum of multifocal neurological disorders, including SPS, but also sleep disorders, autonomic dysfunction (particularly of the gastrointestinal tract), encephalopathy, brainstem syndromes, tremor, and myelopathy. 75 When SPS is present in association with DPPX, it is more frequently the PERM phenytope.…”

Section: Stiff Person Syndrome/permmentioning

confidence: 99%

Autoimmune Movement Disorders

Fearon

O’Toole

2018

Semin Neurol

View full text Add to dashboard Cite

Autoimmune movement disorders are rare but potentially treatable entities. They can present with an excess or paucity of movement and may have other associated neurological symptoms. These disorders were originally recognized by their classic clinical presentations and the cancers associated with them. Recent emphasis has been targeted on associated, and sometimes causative, antibodies. Although some disorders have stereotypical presentations, the spectrum of abnormalities reported in association with antibodies is widening. Determining whether antibodies are incidental or pathogenic and, hence, foregoing or commencing immunotherapy treatment can be challenging for practicing neurologists. Physicians often have to make the decision to empirically treat patients while awaiting test results. Due to the lack of randomized controlled trials, the ideal immunotherapy treatments and regimens are unknown. Patients with intracellularly targeted antibodies tend to fare less well, while those with extracellularly targeted antibody disorders often respond to treatments reducing antibody production. This review aims to summarize reported adult-onset autoimmune movement disorders to date, and to provide a template for the workup and treatment of suspected disorders. Rarer antibodies that are not yet fully characterized, or reported in a few cases only, will not be covered in detail as these are not likely to be readily commercially available. Childhood disorders will be only be mentioned briefly in the discussion, as there is a separate article in this issue on autoimmune neurologic diseases in children.

show abstract

Longitudinally extensive transverse myelitis associated with amphiphysin autoimmunity and breast cancer: a paraneoplastic accompaniment

Cited by 5 publications

References 5 publications

18F-FDG PET/CT Findings in a Rare Case of Paraneoplastic Vestibulocerebellar Syndrome Associated With Isolated Antiamphiphysin Antibodies

18F-FDG PET/CT Findings in a Rare Case of Paraneoplastic Vestibulocerebellar Syndrome Associated With Isolated Antiamphiphysin Antibodies

Anti-amphiphysin encephalitis: Expanding the clinical spectrum

Autoimmune Movement Disorders

Contact Info

Product

Resources

About