Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

摘要: Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, Parkinson's disease and Huntington's disease, but phenotype natural history have not been defined. We studied genetically homogeneous group of 41 subjects 460InsA mutation FTL1, documenting presentation, clinical course, biochemistry neuroimaging. The mean age onset was 39.4 years (SD = 13.3, range 13-63), beginning chorea 50%, focal lower limb dystonia 42.5% parkinsonism 7.5%. majority reported family often misdiagnosed as disease. progressed relentlessly, becoming generalized over 5-10 year period, eventually leading to aphonia, dysphagia severe motor disability subcortical/frontal cognitive dysfunction late feature. A characteristic action-specific facial (65%), 63% there asymmetry throughout course. Serum levels were low males post-menopausal females, within normal limits for pre-menopausal females. MR brain imaging abnormal on all affected individuals one presymptomatic carrier. In conclusion, isolated unusual neuroferritinopathy, unlike changes are absent or subtle early stages. Depressed serum provides useful screening test routine practice, gradient echo MRI will identify symptomatic cases.