Article ; Online: Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia.
Journal of neuropathology and experimental neurology
2023 Volume 82, Issue 8, Page(s) 695–706
Abstract: Brain lesions exclusive to dystonia, or specific forms of it, such as isolated dystonia, have been rarely described. While the identification of distinctive intra- or extraneuronal abnormalities in childhood-onset generalized dystonia (DYT1) brains ... ...
Abstract | Brain lesions exclusive to dystonia, or specific forms of it, such as isolated dystonia, have been rarely described. While the identification of distinctive intra- or extraneuronal abnormalities in childhood-onset generalized dystonia (DYT1) brains remains lacking, recent stereology-based findings demonstrated hypertrophy of neurons in the substantia nigra (SN) of DYT1-carriers manifesting dystonia (DYT1-manif) versus DYT1-carriers nonmanifesting dystonia (DYT1-nonmanif), and age-matched control subjects (C). Because other brain regions including the cerebellum (CRB) have been implicated in the pathomechanisms of dystonia, we investigated neurons of the dentate nucleus (DN), the "door-out" nucleus of the CRB. We performed systematic neuropathologic assessments and stereology-based measurements of 7 DN from DYT1-carriers (DYT1-DN; 4 DYT1-manif and 3 DYT1-nonmanif), and 5 age-matched control (C-DN) subjects. Data demonstrated larger cell body (+14.1%), nuclear (+10.6%), and nucleolar (+48.3%) volumes of DYT1-DN versus C-DN neurons. No differences in intra- and extracellular pathological indicators (β-amyloid, pTau, α-synuclein, Torsin1A, Negri, Bunina, Hirano, Marinesco, Nissl bodies, Buscaino bodies, granulovacuolar degeneration, or cerebrovascular lesions) were detected in DYT1-DN versus C-DN. Astroglial reactivity (GFAP) and microglial activation (IBA1) were observed in some DYT1-DNs. These novel findings confirm involvement of the DN and CRB in the pathogenesis of DYT1 and perhaps of other forms of isolated dystonia. |
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MeSH term(s) | Humans ; Dystonia/genetics ; Dystonia/pathology ; Cerebellar Nuclei/pathology ; Molecular Chaperones/genetics ; Brain/pathology ; Neurons/pathology |
Chemical Substances | Molecular Chaperones |
Language | English |
Publishing date | 2023-06-10 |
Publishing country | England |
Document type | Journal Article ; Research Support, Non-U.S. Gov't |
ZDB-ID | 3088-0 |
ISSN | 1554-6578 ; 0022-3069 |
ISSN (online) | 1554-6578 |
ISSN | 0022-3069 |
DOI | 10.1093/jnen/nlad044 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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