Two cases with postural axial tremor: Consider a genetic origin.
CACNA1A
Paroxysmal tremor
Postural axial tremor
SETX
Trunk tremor
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
04
05
2019
revised:
30
03
2020
accepted:
26
04
2020
entrez:
7
10
2020
pubmed:
8
10
2020
medline:
7
9
2021
Statut:
ppublish
Résumé
We present two cases with postural axial tremor predominantly involving the head, trunk, and shoulders. In the first patient, the postural tremor occurred in multiple attacks a day lasting approximately 10 min. The second patient developed a progressive tremor of his head and arms, worsened during sitting and standing. Electrophysiological supported the postural axial tremor in both patients with a varying 3-10 Hz tremor frequency between different muscles and within the same muscles at different times. Postural axial tremor is a rare and complex movement disorder. The majority of cases are caused by acquired cerebellar pathology. However, isolated cases with underlying genetic disorders are described in literature. Here, we illustrate how to differentiate paroxysmal axial tremor from other axial hyperkinetic movement disorders and extend the genetic heterogeneity of this intriguing movement disorder phenotype.
Identifiants
pubmed: 33023723
pii: S1353-8020(20)30108-5
doi: 10.1016/j.parkreldis.2020.04.013
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
152-154Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.