title: [Type I neurodegeneration with brain iron accumulation, (NBIA-I, formerly Hallervorden-Spatz disease). Part II -- neuropathologic manifestation, novel genetic aspects and pathogenesis].
abstract: In NBIA-1 major histopathological changes in the central nervous system are observed mostly in the subcortical pallido-nigral system. They consist in the presence of brown pigment deposits (containing iron), axonal spheroids, as well as Lewy neurities and cytoplasmic inclusions in the oligodendroglia (both the latter contain pathological alfa-synuclein). However, the histopathological pattern is most the diversified as regards the intensity and range of typical structural changes. The gene of the disease has been very recently identified and mapped on the short arm of the chromosome 20p13.-p12.3. The discovery of the NBIA-1 gene is a great advance in the search for a causal cure for this devastating disease. Its etiopathogenesis has not been fully explained yet. However, the gene identification allows to hypothesize that vitamin B5 metabolism may be disturbed at least in some NBIA-1 patients. Disturbance of vitamin B5 metabolism may cause an oxidative stress leading to degenerative and atrophic changes, most pronounced in the subcortical pallido-nigral system and in the retina.
authors.affiliation: Zakładu Neuropatologii, Instytutu Psychiatrii i Neurologii w Warszawie. bertrand@ipin.edu.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Bertrand
mesh_terms: D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D015870:Gene Expression / Q000235:genetics; D005917:Globus Pallidus / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D007501:Iron / Q000502:physiology*; D009410:Nerve Degeneration / Q000473:pathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D013378:Substantia Nigra / Q000473:pathology* / Q000503:physiopathology*
chemical_list: D007501:Iron
vernacular_title: Zwyrodnienie ośrodkowego układu nerwowego z odkładaniem sie zelaza w mózgu, typu pierwszego (dawniej choroba Hallervordena-Spatza). Cześć II--Obraz histopatologiczny, nowe aspekty genetyczne oraz patogeneza.