{"Name":"Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids","DiseaseID__c":"GARD:0010779","id":10779,"encodedName":"chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids","IsDeleted":false,"Disease_Name_Full__c":"Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids","Xref_IDs__c":"773688007; C3854437; MEDGEN:1433964; MONDO:0017297; ORPHA:284448","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0010779","Disease_Description__c":"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. CLIPPERS predominantly affects the cerebellum, spinal cord, and brainstem - the part of the brain that directly connects to the spinal cord. Symptoms usually develop over weeks or months, and only rarely over days. 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). 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). The underlying cause of CLIPPERS currently is unclear. 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. A brain MRI with contrast typically has characteristic findings. An important part of the ultimate diagnosis, and a classic feature of CLIPPERS, is that symptoms and MRI findings markedly improve with corticosteroid therapy. 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.","GARD_Name__c":"Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids","GARD_Synonym__c":"clippers; clippers - chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids","Curated_Disease_Description_Source__c":"GARD:0010779","Curated_Disease_Description__c":"CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:284448","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017297","ORPHANET_ID__c":"ORPHA:284448","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Clippers","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"clippers","Spanish_GARD_Synonym__c":"inflamación linfocítica crónica con mejora perivascular pontina sensible a esteroides","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.","Curated_Disease_Description_Source__c":"GARD:0010779","GARD_Synonym__c":"clippers; clippers - chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids","Name":"Chronic lymphocytic inflammation with pontine perivascular enhancement responsiv","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Encephalitis Society","Website__c":"https://www.encephalitis.info/"},{"Account_Name__c":"Brain & Spine Foundation","Website__c":"https://www.brainandspine.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284448"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/284448","Source__c":"C3854437; MONDO:0017297; ORPHA:284448","Xref__c":"ORPHA:284448"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1433964","Source__c":"C3854437","Xref__c":"MEDGEN:1433964"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3854437","Source__c":"C3854437","Xref__c":"C3854437"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773688007","Source__c":"C3854437","Xref__c":"773688007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017297","Source__c":"GARD:0010779","Xref__c":"MONDO:0017297"}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology"]},"synonyms":["clippers"," clippers - chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids"]}