ABSTRACT
ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
RESUMO A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.
Subject(s)
Humans , Neuroaxonal Dystrophies/genetics , Neuroaxonal Dystrophies/diagnostic imaging , Iron Metabolism Disorders/genetics , Iron Metabolism Disorders/diagnostic imaging , Neuroimaging/methods , Mutation , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/diagnostic imaging , Basal Ganglia Diseases/genetics , Basal Ganglia Diseases/diagnostic imaging , Ceruloplasmin/deficiency , Ceruloplasmin/genetics , Coenzyme A Ligases/genetics , Heredodegenerative Disorders, Nervous System/genetics , Heredodegenerative Disorders, Nervous System/diagnostic imaging , Diabetes Mellitus/genetics , Diabetes Mellitus/diagnostic imaging , Alopecia/genetics , Alopecia/diagnostic imaging , Hypogonadism/genetics , Hypogonadism/diagnostic imagingABSTRACT
The present study deals with a total of 28 cases of Wilson's disease, 50 normal individuals alongwith siblings and parents of eight cases. Male predominance (18 out of 28 cases), a median age of 11 years and universal presence of Kayser-Fleischer (K. F.) ring marked the cardinal features. Furthermore, 11 patients had hepatic-neural presentation while two had only the K. F. Ring without clinical abnormality. Single Radial Immunodiffusion (SRID) as the absolute quantitative procedure revealed a profound deficiency of ceruloplasmin with the levels ranging anywhere between 0.5 mg/dI to 23 mg/dI amongst the patients of Wilson's disease. The data from siblings and parents also revealed deficiency in 15 out of 23 serum samples when subjected to disc electrophoresis-benzidine screening procedure.