[Neurodegeneration with brain iron accumulation, type-I (NBIA-I) (formerly Hallervorden-Spatz, disease). Par I: clinical manifestation and treatment].
This is a rare syndrome, most likely of several genetically determined neurodegenerative disorders with similar pathogenesis. Two forms of the disease are distinguished: familial occurring in about 50% of cases and sporadic with about 15% of cases in which parental consanguinity is found. Clinically, NBIA-1 is characterised by a slow progression of extrapyramidal symptoms and progressive dementia, mostly in children. Relentlessly progressive course is obvious, but the progress may be very slow, taking sometimes several dozen of years. Four subtypes of the disease have been thus far distinguished: early childhood, late childhood, adult onset and with protracted course. The clinical diagnosis of NBIA-1 is only probable because specific abnormalities have not as yet been detected in laboratory investigations. However, NBIA-1 should be suspected, if extrapyramidal symptoms are observed, such as dystonia, choreoathetosis, muscular rigidity, moreover dementia, retinal degeneration and/or optic nerve atrophy and characteristic magnetic resonance imaging (so called "the eye-of-the tiger" sign). At present, only comprehensive symptomatic treatment is possible.
Bertrand
Ewa
E
Zakładu Neuropatologii, Instytut Psychiatrii i Neurologii w Warszawie. bertrand@ipin.edu.pl
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004292:Dominance, Cerebral; D005808:Genes, Recessive / Q000235:genetics; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy