TY - JOUR
T1 - Von economo neuron pathology in familial dysautonomia
T2 - Quantitative assessment and possible implications
AU - Jacot-Descombes, Sarah
AU - Keshav, Neha
AU - Brosch, Carla Micaela Santos
AU - Wicinski, Bridget
AU - Warda, Tahia
AU - Norcliffe-Kaufmann, Lucy
AU - Kaufmann, Horacio
AU - Varghese, Merina
AU - Hof, Patrick R.
N1 - Publisher Copyright:
© 2020 Oxford University Press. All rights reserved.
PY - 2020
Y1 - 2020
N2 - Von Economo neurons (VENs) and fork cells are principally located in the anterior cingulate cortex (ACC) and the frontoinsular cortex (FI). Both of these regions integrate inputs from the autonomic nervous system (ANS) and are involved in decision-making and perception of the emotional states of self and others. Familial dysautonomia (FD) is an orphan disorder characterized by autonomic dysfunction and behavioral abnormalities including repetitive behavior and emotional rigidity, which are also seen in autism spectrum disorder. To understand a possible link between the ANS and the cortical regions implicated in emotion regulation we studied VENs and fork cells in an autonomic disorder. We determined the densities of VENs, fork cells, and pyramidal neurons and the ratio of VENs and fork cells to pyramidal neurons in ACC and FI in 4 FD patient and 6 matched control brains using a stereologic approach. We identified alterations in densities of VENs and pyramidal neurons and their distributions in the ACC and FI in FD brains. These data suggest that alterations in migration and numbers of VENs may be involved in FD pathophysiology thereby supporting the notion of a functional link between VENs, the ANS and the peripheral nervous system in general.
AB - Von Economo neurons (VENs) and fork cells are principally located in the anterior cingulate cortex (ACC) and the frontoinsular cortex (FI). Both of these regions integrate inputs from the autonomic nervous system (ANS) and are involved in decision-making and perception of the emotional states of self and others. Familial dysautonomia (FD) is an orphan disorder characterized by autonomic dysfunction and behavioral abnormalities including repetitive behavior and emotional rigidity, which are also seen in autism spectrum disorder. To understand a possible link between the ANS and the cortical regions implicated in emotion regulation we studied VENs and fork cells in an autonomic disorder. We determined the densities of VENs, fork cells, and pyramidal neurons and the ratio of VENs and fork cells to pyramidal neurons in ACC and FI in 4 FD patient and 6 matched control brains using a stereologic approach. We identified alterations in densities of VENs and pyramidal neurons and their distributions in the ACC and FI in FD brains. These data suggest that alterations in migration and numbers of VENs may be involved in FD pathophysiology thereby supporting the notion of a functional link between VENs, the ANS and the peripheral nervous system in general.
KW - Anterior cingulate cortex
KW - Autism spectrum disorder
KW - Autonomic nervous system
KW - Familial dysautonomia
KW - Fork cells
KW - Frontoinsular cortex
KW - Von Economo neurons
UR - http://www.scopus.com/inward/record.url?scp=85091266138&partnerID=8YFLogxK
U2 - 10.1093/JNEN/NLAA095
DO - 10.1093/JNEN/NLAA095
M3 - Article
C2 - 32954436
AN - SCOPUS:85091266138
SN - 0022-3069
VL - 79
SP - 1072
EP - 1083
JO - Journal of Neuropathology and Experimental Neurology
JF - Journal of Neuropathology and Experimental Neurology
IS - 10
ER -