Case report: A case of ALS with paraneoplastic Anti-Ma2 antibodies

Conference Paper/Poster - Nov 4, 2011


Leupold D, Tettenborn B, Felbecker A (2011). Case report: A case of ALS with paraneoplastic Anti-Ma2 antibodies.
Conference Paper/Poster (English)
Conference Name
SNG Jahrestagung (St. Gallen)
Publisher Proceedings
Publication Date
Nov 4, 2011
Issn Print
Isbn Number
supplement 4 ad 2011;162(4), S7
Brief description/objective

Objectives: Anti-Ma2 antibodies are well characterized
onconeural antibodies causing paraneoplastic neurological
syndromes like limbic and brainstem encephalitis. They are
highly specific for the presence of germ-cell tumours of the testis
and lung carcinoma [1]. There are few reports of other
neurological syndromes associated with anti-Ma2 antibodies
including one case with encephalitis and progressive muscular
atrophy (PMA).
We report a patient with anti-Ma2 antibodies without evidence
of carcinoma who presented with clinical signs of motor neuron
disease without evidence of encephalitis.
Methods: A 64-year-old Caucasian man presented with
progressive muscular weakness of the lower extremities and
continued weight loss for approximately one year. In addition
to distally pronounced tetraparesis he showed severe muscular
atrophy of all extremities, widespread fasciculations and
increased reflexes in the upper extremities. At follow up the
patient developed dysphagia. The diagnostic workup consisted
of a detailed blood and cerebrospinal fluid analysis including
routine blood tests, serologies of HIV, hepatitis, borrelia and
syphilis as well as vasculitis markers and paraneoplastic
antibodies. We also conducted extensive electrophysiological
studies. For differential diagnosis magnetic resonance (MR)
scans of brain and spine were performed. Furthermore we did an
extensive tumour screening including sonography of the testis,
chest and abdominal radiography as well as a positron emission
tomography (PET) scan.
Results: Clinical examination and electrophysiological studies
revealed signs of upper motor neuron involvement in two regions
and signs of lower motor neuron involvement in four regions of
the body. Thus, probable ALS was diagnosed. MR imaging of the
brain and spine were normal apart from moderate degenerative
changes of the cervical and lumbar spine without myelopathy.
CSF analysis revealed mild pleocytosis, other parameters within
normal limits. The detection of increased anti-Ma2 antibodies
originated the intensive search for a tumour (e.g. testicular germcell
tumour), which could not be detected so far.
Conclusion: This is the first report of a clinically typical motor
neuron disease associated with anti-Ma2 paraneoplastic
antibodies. In consideration of a high specificity of anti-Ma2
antibodies in view of a paraneoplastic neurological disease,
the clinical presentation of motor neuron disease should be
considered in differential diagnosis and might be a
paraneoplastic syndrome of these antibodies.