Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options.
BACKGROUND
Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options.


METHODS
In the first case, progressively generalizing dystonic symptoms appeared during childhood. A mutation in the gene encoding pantothenate kinase 2 (PANK2) was found. Brain MRI showed bilateral hypersignals within the globus pallidi on T2-weighted images. The patient was successfully treated by pallidal deep brain stimulation (DBS). In the second case an adult onset with parkinsonism was observed, for which no PANK2 mutation was found. T2-weighted brain MR images revealed multiple significant hyposignals (suggestive of iron deposits) localised in the cerebellar dentate nuclei and in the globi pallidi, the red nuclei and the substantia nigra. An antiparkinsonian treatment was proposed.


CONCLUSIONS
The clinical, radiographic and genetic heterogeneity of NBIA has to be underlined.
Clement
Frederik
F
Department of Neurology, Hôpital Roger Salengro, Lille, France. freclement@yahoo.com
Devos
David
D
Moreau
Caroline
C
Coubes
Philippe
P
Destee
Alain
A
Defebvre
Luc
L
D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004421:Dystonia / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D007980:Levodopa / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016896:Treatment Outcome
D007980:Levodopa; D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase