Tremor is associated with familial clustering of dystonia
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Tremor is associated with familial clustering of dystonia. / Loens, Sebastian; Hamami, Feline; Lohmann, Katja; Odorfer, Thorsten; Ip, Chi Wang; Zittel, Simone; Zeuner, Kirsten E; Everding, Judith; Becktepe, Jos; Marth, Katrin; Borngräber, Friederike; Kollewe, Katja; Kamm, Christoph; Kühn, Andrea A; Gelderblom, Mathias; Volkmann, Jens; Klein, Christine; Bäumer, Tobias.
in: PARKINSONISM RELAT D, Jahrgang 110, 05.2023, S. 105400.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Tremor is associated with familial clustering of dystonia
AU - Loens, Sebastian
AU - Hamami, Feline
AU - Lohmann, Katja
AU - Odorfer, Thorsten
AU - Ip, Chi Wang
AU - Zittel, Simone
AU - Zeuner, Kirsten E
AU - Everding, Judith
AU - Becktepe, Jos
AU - Marth, Katrin
AU - Borngräber, Friederike
AU - Kollewe, Katja
AU - Kamm, Christoph
AU - Kühn, Andrea A
AU - Gelderblom, Mathias
AU - Volkmann, Jens
AU - Klein, Christine
AU - Bäumer, Tobias
N1 - Copyright © 2023 Elsevier Ltd. All rights reserved.
PY - 2023/5
Y1 - 2023/5
N2 - INTRODUCTION: Dystonia is a movement disorder of variable etiology and clinical presentation and is accompanied by tremor in about 50% of cases. Monogenic causes in dystonia are rare, but also in the group of non-monogenic dystonias 10-30% of patients report a family history of dystonia. This points to a number of patients currently classified as idiopathic that have at least in part an underlying genetic contribution. The present study aims to identify clinical and demographic features associated with heritability of yet idiopathic dystonia.METHODS: Seven hundred thirty-three datasets were obtained from the DysTract dystonia registry, patients with acquired dystonia or monogenic causes were excluded. Affected individuals were assigned to a familial and sporadic group, and clinical features were compared across these groups. Additionally, the history of movement disorders was also counted in family members.RESULTS: 18.2% of patients reported a family history of dystonia. Groups differed in age at onset, disease duration and presence of tremor on a descriptive level. Logistic regression analysis revealed that tremor was the only predictor for a positive family history of dystonia (OR 2.49, CI = 1.54-4.11, p < 0.001). Tremor turned out to be the most common movement disorder in available relatives of patients, and presence of tremor in relatives was associated with tremor in index patients (X2(1) = 16.2, p < 0.001).CONCLUSIONS: Tremor is associated with an increased risk of familial clustering of dystonia and with a family history of tremor itself. This indicates a hereditable dystonia-tremor syndrome with a clinical spectrum ranging from tremor-predominant diseases to dystonia.
AB - INTRODUCTION: Dystonia is a movement disorder of variable etiology and clinical presentation and is accompanied by tremor in about 50% of cases. Monogenic causes in dystonia are rare, but also in the group of non-monogenic dystonias 10-30% of patients report a family history of dystonia. This points to a number of patients currently classified as idiopathic that have at least in part an underlying genetic contribution. The present study aims to identify clinical and demographic features associated with heritability of yet idiopathic dystonia.METHODS: Seven hundred thirty-three datasets were obtained from the DysTract dystonia registry, patients with acquired dystonia or monogenic causes were excluded. Affected individuals were assigned to a familial and sporadic group, and clinical features were compared across these groups. Additionally, the history of movement disorders was also counted in family members.RESULTS: 18.2% of patients reported a family history of dystonia. Groups differed in age at onset, disease duration and presence of tremor on a descriptive level. Logistic regression analysis revealed that tremor was the only predictor for a positive family history of dystonia (OR 2.49, CI = 1.54-4.11, p < 0.001). Tremor turned out to be the most common movement disorder in available relatives of patients, and presence of tremor in relatives was associated with tremor in index patients (X2(1) = 16.2, p < 0.001).CONCLUSIONS: Tremor is associated with an increased risk of familial clustering of dystonia and with a family history of tremor itself. This indicates a hereditable dystonia-tremor syndrome with a clinical spectrum ranging from tremor-predominant diseases to dystonia.
KW - Humans
KW - Dystonia/etiology
KW - Tremor/epidemiology
KW - Dystonic Disorders/epidemiology
KW - Movement Disorders/complications
KW - Cluster Analysis
U2 - 10.1016/j.parkreldis.2023.105400
DO - 10.1016/j.parkreldis.2023.105400
M3 - SCORING: Journal article
C2 - 37086575
VL - 110
SP - 105400
JO - PARKINSONISM RELAT D
JF - PARKINSONISM RELAT D
SN - 1353-8020
ER -
