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Disease Profile

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CLIPPERS

Categories

Nervous System Diseases

Summary

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a treatable inflammatory disease of the central nervous system. Specifically, it is a type of encephalomyelitis, which is a general term describing inflammation of the brain and spinal cord.[1] CLIPPERS predominantly affects the cerebellum, spinal cord, and brainstem - the part of the brain that directly connects to the spinal cord.[1][2]

Symptoms usually develop over weeks or months, and only rarely over days.[1] The most common symptoms of CLIPPERS include uncoordinated walking (gait ataxia), double vision (diplopia), difficulty speaking (dysarthria), cognitive impairment, and abnormal facial sensations (such as numbness or tingling).[1][2][3] Other symptoms may include pseudobulbar affect, ringing in the ears (tinnitis), shaking muscles (tremor), uncontrolled eye movements (nystagmus), distortion of taste, nausea, or paraparesis (partial loss of function of the legs).[1] 

The underlying cause of CLIPPERS currently is unclear.[1] There is no one laboratory or imaging test that confirms the diagnosis, but various laboratory and imaging tests may be needed to support the diagnosis, and to confirm or rule out many other conditions that cause overlapping symptoms.[1] A brain MRI with contrast typically has characteristic findings.[1][2] An important part of the ultimate diagnosis, and a classic feature of CLIPPERS, is that symptoms and MRI findings markedly improve with corticosteroid therapy.[1][2]

Corticosteroids may first be taken intravenously (by IV) for several days, and then orally. Most people with CLIPPERS recover significantly within weeks of starting corticosteroids. However, depending on symptom severity and how long the disease was present before treatment, some people will not recover completely. Prolonged treatment with corticosteroids or other immunosuppressant medications (for at least one year) usually is necessary to prevent symptoms from recurring or worsening again.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Zalewski NL, Tobin WO. CLIPPERS. Curr Neurol Neurosci Rep. September, 2017; 17(9):65. https://www.ncbi.nlm.nih.gov/pubmed/28726127.
          2. Tobin WO, Guo Y, Krecke KN et al. Diagnostic criteria for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). Brain. September, 2017; 140(9):2415-2425. https://academic.oup.com/brain/article-abstract/140/9/2415/4096699?redirectedFrom=fulltext.
          3. Pittock SJ, Debruyne J, Krecke KN, Giannini C, van den Ameele J, De Herdt V, et al. Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). Brain. Sept 2010; 133(9):2626-34. https://brain.oxfordjournals.org/content/133/9/2626.long.