Neuroferritinopathy
Author(s)
Lehn, Alexander
Boyle, Richard
Brown, Helen
Airey, Caroline
Mellick, George
Griffith University Author(s)
Year published
2012
Metadata
Show full item recordAbstract
Neuroferritinopathy is an autosomal dominantly inherited disorder caused by mutations in the gene encoding the ferritin light chain polypeptide. It leads to iron deposition particularly in the cerebellum, basal ganglia and motor cortex. The disease becomes clinically apparent in adulthood mainly with extrapyramidal signs and progresses slowly over decades. Patients usually have intact cognition until the very late stages of this disorder. Neuroimaging is the most helpful investigation and shows a very distinctive picture. So far no medication has been shown to have a disease-modifying effect. We present five new cases ...
View more >Neuroferritinopathy is an autosomal dominantly inherited disorder caused by mutations in the gene encoding the ferritin light chain polypeptide. It leads to iron deposition particularly in the cerebellum, basal ganglia and motor cortex. The disease becomes clinically apparent in adulthood mainly with extrapyramidal signs and progresses slowly over decades. Patients usually have intact cognition until the very late stages of this disorder. Neuroimaging is the most helpful investigation and shows a very distinctive picture. So far no medication has been shown to have a disease-modifying effect. We present five new cases of this condition and review the current understanding of the pathogenesis and its clinical findings.
View less >
View more >Neuroferritinopathy is an autosomal dominantly inherited disorder caused by mutations in the gene encoding the ferritin light chain polypeptide. It leads to iron deposition particularly in the cerebellum, basal ganglia and motor cortex. The disease becomes clinically apparent in adulthood mainly with extrapyramidal signs and progresses slowly over decades. Patients usually have intact cognition until the very late stages of this disorder. Neuroimaging is the most helpful investigation and shows a very distinctive picture. So far no medication has been shown to have a disease-modifying effect. We present five new cases of this condition and review the current understanding of the pathogenesis and its clinical findings.
View less >
Journal Title
Parkinsonism and Related Disorders
Volume
18
Issue
8
Subject
Clinical sciences
Neurology and neuromuscular diseases
Cognitive and computational psychology