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Abstract Details

Severe, Subacute, Progressive, Sensory Predominant Polyneuropathy in a Patient with Chronic Progressive Cerebellar Ataxia and Antibodies to ITPR-1
Autoimmune Neurology
P1 - Poster Session 1 (8:00 AM-9:00 AM)
14-013
Antibodies against Inositol 1,4,5 trisphosphate receptor type 1 (ITPR1) are associated with subacute axonal and demyelinating polyneuropathies and chronic progressive cerebellar ataxia. Co-occurring malignancies have been identified in some cases. Despite evidence of autoimmunity, most cases have not shown benefit from immunosuppression. 
To advance understanding of clinical phenotypes of anti-ITPR1 related disease in patients with subacute progressive neuropathy and chronic cerebellar ataxia.
Retrospective chart review of a case of a patient with chronic ataxia and subacute polyneuropathy with ITPR-1 antibodies.
67 year old male with nine year history of chronic, progressive cerebellar ataxia previously diagnosed with multiple system atrophy, cerebellar subtype, (MSA-c) presented with ten weeks of progressive ascending sensory loss and weakness. In addition to progression of appendicular ataxia, examination demonstrated absent sensation to pinprick and vibration in the lower extremities and in the upper extremities distal to the elbow, trace to absent reflexes, and distal predominant, upper and lower extremity weakness. Cerebrospinal fluid showed normal protein and glucose and was acellular. Given his severe ataxia, expanded work up found positive serum and CSF ITPR-1 antibodies, and CSF oligoclonal bands. Nerve conduction studies and electromyography showed a severe, sensory predominant polyneuropathy with motor conduction velocities in the indeterminate range. A PET scan showed no malignancy.  He was treated with 2g/kg of IVIG, though no clinical improvement was seen.
This case highlights the potential different clinical phenotypes seen in ITPR-1 mediated disease, though it is difficult to be certain whether the prior diagnosis of MSA-c was separate to the ITRP-1 mediated sensory polyneuropathy, or whether ITPR-1 was the unifying diagnosis for both clinical syndromes.  As a result, consideration should be made to test for ITRP-1 in patients presenting with severe, subacute, progressive polyneuropathy or chronic progressive cerebellar ataxia. 
Authors/Disclosures
Jonathan E. Nutt, MD (University of Rochester Strong Memorial Hospital)
PRESENTER
An immediate family member of Dr. Nutt has received personal compensation for serving as an employee of ACM Global Laboratories.
Peter E. Morrison, DO (University of Rochester, Neurology) Dr. Morrison has nothing to disclose.
Phillip C. Mongiovi, MD (U of Rochester, Dept of Neurology) Dr. Mongiovi has nothing to disclose.
Christopher Tarolli, MD (University of Rochester) Dr. Tarolli has received personal compensation for serving as an employee of University of Rochester. The institution of Dr. Tarolli has received research support from Biosensics. The institution of Dr. Tarolli has received research support from National Institutes of Health. The institution of Dr. Tarolli has received research support from Biogen. Dr. Tarolli has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Davis Phinney Foundation. Dr. Tarolli has received personal compensation in the range of $500-$4,999 for serving as a Speaker, Committee Member with American Academy of Neurology. Dr. Tarolli has a non-compensated relationship as a Committee Member with American Academy of Neurology that is relevant to AAN interests or activities.