PuSH - Publikationsserver des Helmholtz Zentrums München

Amprosi, M.* ; Zech, M. ; Steiger, R.* ; Nachbauer, W.* ; Eigentler, A.* ; Gizewski, E.R.* ; Guger, M.* ; Indelicato, E.* ; Boesch, S.*

Familial writer's cramp: A clinical clue for inherited coenzyme Q10 deficiency.

Neurogenetics 22, 81–86 (2020)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
The spectrum of coenzyme Q(10)(CoQ(10)) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain-containing kinase 3 gene (ADCK3). Due to the potential response to CoQ(10)supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygousADCK3variant and an unusual presentation consisting of isolated writer's cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer's cramp.
Altmetric
Weitere Metriken?
[➜Einloggen]
Zusatzinfos bearbeiten [➜Einloggen]
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Ataxia ; Dystonia ; Coenzyme Q(10) ; Magnetic Resonance Spectroscopy ; Ubiquinone ; Mitochondrial Disease; Cerebellar-ataxia; Deficiency; Mutations; Adck3; Patient; Gene
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Zeitschrift Neurogenetics
Quellenangaben Band: 22, Heft: , Seiten: 81–86 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort One New York Plaza, Suite 4600, New York, Ny, United States
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)