Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management

Tremor and Other Hyperkinetic Movements

article

Niraj Kumar¹  Philippe Rizek¹  Mandar Jog¹ 

[1] Department of Clinical Neurological Sciences, Western University

关键词: Neuroferritinopathy;    FTL1 gene;    chorea;    dystonia;    neurodegeneration with brain iron accumulation;    Huntington’s disease;    hereditary ferritinopathy;   

DOI  :  10.5334/tohm.317

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 ( FTL1 ) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Methods: A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. Results: There have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician. Discussion: NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington’s disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success.

【 授权许可】

CC BY