Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Developmental neurobiology of cerebellar and Basal Ganglia connections

Sival, Deborah A ; Noort, Suus A M van ; Tijssen, Marina A J ; de Koning, Tom J LU and Verbeek, Dineke S (2022) In European Journal of Paediatric Neurology 36. p.123-129
Abstract

BACKGROUND: The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dystonia (EOA-dystonia) explores the conceptual relationship between the motor phenotype and the cortico-basal-ganglia-ponto-cerebellar network.

METHODS: In EOA-dystonia, we reviewed anatomic-, genetic- and biochemical-studies on the comorbidity between ataxia and dystonia.

RESULTS: In a clinical EOA cohort, the prevalence of dystonia was over 60%. Both human and animal studies converge on the underlying role for the cortico-basal-ganglia-ponto-cerebellar network. Genetic -clinical... (More)

BACKGROUND: The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dystonia (EOA-dystonia) explores the conceptual relationship between the motor phenotype and the cortico-basal-ganglia-ponto-cerebellar network.

METHODS: In EOA-dystonia, we reviewed anatomic-, genetic- and biochemical-studies on the comorbidity between ataxia and dystonia.

RESULTS: In a clinical EOA cohort, the prevalence of dystonia was over 60%. Both human and animal studies converge on the underlying role for the cortico-basal-ganglia-ponto-cerebellar network. Genetic -clinical and -in silico network studies reveal underlying biological pathways for energy production and neural signal transduction.

CONCLUSIONS: EOA-dystonia phenotypes are attributable to the cortico-basal-ganglia-ponto-cerebellar network, instead of to the cerebellum, alone. The underlying anatomic and pathogenetic pathways have clinical implications for our understanding of the heterogeneous phenotype, neuro-metabolic and genetic testing and potentially also for new treatment strategies, including neuro-modulation.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Paediatric Neurology
volume
36
pages
123 - 129
publisher
Elsevier
external identifiers
  • pmid:34954622
  • scopus:85121580561
ISSN
1090-3798
DOI
10.1016/j.ejpn.2021.12.001
language
English
LU publication?
no
additional info
Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.
id
314836c5-5d03-4bc0-960b-320721733b20
date added to LUP
2022-01-03 14:04:28
date last changed
2024-09-22 08:38:44
@article{314836c5-5d03-4bc0-960b-320721733b20,
  abstract     = {{<p>BACKGROUND: The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dystonia (EOA-dystonia) explores the conceptual relationship between the motor phenotype and the cortico-basal-ganglia-ponto-cerebellar network.</p><p>METHODS: In EOA-dystonia, we reviewed anatomic-, genetic- and biochemical-studies on the comorbidity between ataxia and dystonia.</p><p>RESULTS: In a clinical EOA cohort, the prevalence of dystonia was over 60%. Both human and animal studies converge on the underlying role for the cortico-basal-ganglia-ponto-cerebellar network. Genetic -clinical and -in silico network studies reveal underlying biological pathways for energy production and neural signal transduction.</p><p>CONCLUSIONS: EOA-dystonia phenotypes are attributable to the cortico-basal-ganglia-ponto-cerebellar network, instead of to the cerebellum, alone. The underlying anatomic and pathogenetic pathways have clinical implications for our understanding of the heterogeneous phenotype, neuro-metabolic and genetic testing and potentially also for new treatment strategies, including neuro-modulation.</p>}},
  author       = {{Sival, Deborah A and Noort, Suus A M van and Tijssen, Marina A J and de Koning, Tom J and Verbeek, Dineke S}},
  issn         = {{1090-3798}},
  language     = {{eng}},
  pages        = {{123--129}},
  publisher    = {{Elsevier}},
  series       = {{European Journal of Paediatric Neurology}},
  title        = {{Developmental neurobiology of cerebellar and Basal Ganglia connections}},
  url          = {{http://dx.doi.org/10.1016/j.ejpn.2021.12.001}},
  doi          = {{10.1016/j.ejpn.2021.12.001}},
  volume       = {{36}},
  year         = {{2022}},
}