NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Extrapyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.010 Biomarker phenotype BEFREE Abnormal neuronal aggregates of alpha-internexin and the three neurofilament (NF) subunits, NFL, NFM, and NFH have recently been identified as the signature lesions of neuronal intermediate filament (IF) inclusion disease (NIFID), a novel neurological disease of early onset with a variable clinical phenotype including frontotemporal dementia, pyramidal and extrapyramidal signs. 16005115 2006