Dementia means number of things - the overlap of neurodegeneration with brain iron accumulation (NBIA) and Alzheimer changes: an autopsy case.
In humans overlap between various neurodegenerative disorders is a well known phenomenon. We reported a case of a 77-year-old woman with parkinsonism, dystonia, psychiatric symptoms and progressing dementia misdiagnosed at the age of 51 years as Parkinson's disease. Histopathological examination of the patient's brain performed 26 years after the disease onset revealed numerous axonal spheroids and iron deposits in structures of the nigro-pallido-striatal system that enabled to diagnose neurodegeneration with brain iron accumulation (NBIA) (former Hallervorden-Spatz syndrome), and changes characteristic for Alzheimer's disease (AD). NBIA is a group of rare clinically and genetically heterogeneous diseases of the extrapyramidal system which common feature is abnormal iron storage in the basal ganglia. Disturbed iron metabolism is also one of the hypothetical patho-mechanisms of AD. A coexistence of morphological changes characteristic for AD and NBIA in our patient suggests that similar molecular mechanisms may be involved in pathogenesis of various neurodegenerative processes, especially in disorders with iron dyshomeostasis. This case contributes also to the increasing evidence of NBIA heterogeneity.
Dziewulska
Dorota
D
Department of Neurology, Medical University of Warsaw, Banacha Str 1a, 02-097 Warsaw, Poland. dorota.dziewulska@wum.edu.pl
Domitrz
Izabela
I
Domzał-Stryga
Anna
A
D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000473:pathology*; D001344:Autopsy; D003704:Dementia / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007501:Iron / Q000378:metabolism; D008875:Middle Aged; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000473:pathology* / Q000503:physiopathology*
D007501:Iron