{"Name":"PLA2G6-associated neurodegeneration","DiseaseID__c":"GARD:0012567","id":12567,"encodedName":"pla2g6-associated-neurodegeneration","IsDeleted":false,"Disease_Name_Full__c":"PLA2G6-associated neurodegeneration","Xref_IDs__c":"CN204472; MEDGEN:831067; MONDO:0017998; NBK1675; ORPHA:329303","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017998","Disease_Description__c":"Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.","GARD_Name__c":"PLA2G6-associated neurodegeneration","GARD_Synonym__c":"neurodegeneration with brain iron accumulation caused by mutation in pla2g6; phospholipase a2-associated neurodegeneration; pla2g6 neurodegeneration with brain iron accumulation; plan","Curated_Disease_Description_Source__c":"MONDO:0017998","Curated_Disease_Description__c":"PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:329303","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017998","ORPHANET_ID__c":"ORPHA:329303","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neurodegeneración asociada a pla2g6","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neurodegeneración asociada a pla2g6","Spanish_GARD_Synonym__c":null,"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":"PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.","Curated_Disease_Description_Source__c":"MONDO:0017998","GARD_Synonym__c":"neurodegeneration with brain iron accumulation caused by mutation in pla2g6; phospholipase a2-associated neurodegeneration; pla2g6 neurodegeneration with brain iron accumulation; plan","Name":"PLA2G6-associated neurodegeneration","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NBIAcure","Website__c":"https://nbiacure.org/"},{"Account_Name__c":"NBIA Disorders Association","Website__c":"https://www.nbiadisorders.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/329303","Source__c":"CN204472; MONDO:0017998","Xref__c":"ORPHA:329303"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=831067","Source__c":"CN204472","Xref__c":"MEDGEN:831067"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN204472","Source__c":"CN204472","Xref__c":"CN204472"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017998","Source__c":"GARD:0012567","Xref__c":"MONDO:0017998"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1675","Source__c":"Gene Review","Xref__c":"NBK1675"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLA2G6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pla2g6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":["neurodegeneration with brain iron accumulation caused by mutation in pla2g6"," phospholipase a2-associated neurodegeneration"," pla2g6 neurodegeneration with brain iron accumulation"," plan"]}