Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics.
Mir
Pablo
P
Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.
Edwards
Mark J
MJ
Curtis
Andrew R J
AR
Bhatia
Kailash P
KP
Quinn
Niall P
NP
D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D020821:Dystonic Disorders / Q000097:blood / Q000235:genetics* / Q000473:pathology; D005293:Ferritins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation; D021122:Protein Subunits / Q000235:genetics*
D021122:Protein Subunits; D005293:Ferritins