Paraneoplastic Cerebellar Degeneration (PCD)
What is Paraneoplastic Cerebellar Degeneration (PCD)?
Paraneoplastic cerebellar ataxia, also known as paraneoplastic cerebellar degeneration (PCD), is one of the wide array of paraneoplastic neurological syndromes in which neurological symptoms are indirectly caused by an underlying malignancy, most commonly gynecological, breast, or lung cancer or Hodgkin's lymphoma. More information about paraneoplastic cerebellar degeneration may be found on the NIH’s website: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365125/
What is the prevalence of Paraneoplastic Cerebellar Degeneration (PCD)?
Paraneoplastic cerebellar degeneration (PCD) has been observed in 25% of paraneoplastic neurologic syndromes, occurring in 2 of every 1000 patients with cancer.
How is Paraneoplastic Cerebellar Degeneration (PCD) diagnosed?
Patients with suspected paraneoplastic cerebellar degeneration (PCD) should receive a complete panel of laboratory studies, including blood, urine, and CSF. In addition, the use of an MRI, EEG (electroencephalogram), and EMG (electromyogram) can further display abnormalities that help to diagnose PCD. More information about diagnosis of PCD may be found on NORD’s website: https://rarediseases.org/rare-diseases/paraneoplastic-neurologic-syndromes/
Is there any specific gene/pathway in Paraneoplastic Cerebellar Degeneration (PCD) that has been identified?
The hallmark of paraneoplastic cerebellar degeneration (PCD) is the presence of an immune response reactive with intracellular proteins of Purkinje or other neurons or, less commonly, against neuronal surface antigens. There is no commonly associated genetic pathway with PCD.
How is Paraneoplastic Cerebellar Degeneration (PCD) treated?
Most investigators have initiated treatment of PCD with corticosteroids, plasma exchange, or intravenous immunoglobulin G. Cyclophosphamide, tacrolimus, rituximab, or possibly mycophenolate mofetil may warrant consideration in patients who fail to stabilize or improve on less aggressive therapies. More information can be found on the NIH’s website: https://pubmed.ncbi.nlm.nih.gov/23315179/
Are there any clinical trials underway for Paraneoplastic Cerebellar Degeneration (PCD)?
The National Institutes of Health (NIH) has completed 0 clinical trials for PCD. Currently, there is 1 clinical trial underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=Paraneoplastic+Cerebellar+Degeneration+&term=&cntry=&state=&city=&dist=
How can RareShare be helpful to Paraneoplastic Cerebellar Degeneration (PCD) patients and families?
The paraneoplastic cerebellar degeneration (PCD) Rareshare community has 9 members. There is currently 1 active discussion underway. New discussions can help to connect patients, health workers, caregivers and families interested in PCD and provide them continual access to community resources.