Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH)

The documented transient withdrawal of parasympathetic activity leading to a paroxysmal unbalanced sympathetic hyperactivity most probably accounts for the PSH-like episodes occurring in post-adolescent CLN3 patients. The findings shed new light on both aetiology and possible preventative and therapeutic measures.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2024-10-10
DOI
https://doi.org/10.1186/s13023-024-03336-1
Citations
6
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
2.82

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article

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH)

John R. Østergaard, Mette Møller Handrup, Cecilie Ejerskov, Henrik Kjærulf Jensen et al.
6 citations
Orphanet Journal of Rare Diseases
Glycogen Storage Diseases and Myoclonus
2.82
article

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH)

John R. Østergaard, Mette Møller Handrup, Cecilie Ejerskov, Henrik Kjærulf Jensen, C Baekmann, H Molgaard
article en
6 citations

Abstract

The documented transient withdrawal of parasympathetic activity leading to a paroxysmal unbalanced sympathetic hyperactivity most probably accounts for the PSH-like episodes occurring in post-adolescent CLN3 patients. The findings shed new light on both aetiology and possible preventative and therapeutic measures.

Orphanet Journal of Rare DiseasesVol. 19(1)
Aarhus University (DK), Aarhus University Hospital (DK)
H. Lundbeck A/S
Good health and well-being
Openalex Percentile: Top 9%
Glycogen Storage Diseases and Myoclonus
2.82
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