Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome

•Syndrome of cervical dystonia and cerebellar ataxia may represent a distinct entity•Most cases of ataxia combined with cervical dystonia are genetically indeterminate.•The CACNA1A gene encodes for the voltage-gated calcium channel subunit alpha 1A.•Mutations in the CACNA1A gene are associated with...

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Veröffentlicht in:	Journal of the neurological sciences 2020-08, Vol.415, p.116909, Article 116909
Hauptverfasser:	Fuerte-Hortigón, A., Pérez-Noguera, R., Dotor García-Soto, J., Royo Boronat, I., Álvarez de Andrés, S., García-Moreno, J.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia CACNA1A Calcium Channels - genetics Cerebellar Ataxia - complications Cerebellar Ataxia - diagnostic imaging Cerebellar Ataxia - genetics Cerebellar Diseases Clinical Neurology Dystonia Humans Life Sciences & Biomedicine Neurosciences Neurosciences & Neurology SCA Science & Technology Torticollis - complications Torticollis - genetics
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Beschreibung
Zusammenfassung:	•Syndrome of cervical dystonia and cerebellar ataxia may represent a distinct entity•Most cases of ataxia combined with cervical dystonia are genetically indeterminate.•The CACNA1A gene encodes for the voltage-gated calcium channel subunit alpha 1A.•Mutations in the CACNA1A gene are associated with several neurological disorders.•The novel CACNA1A variant may cause ataxia combined with cervical dystonia.
ISSN:	0022-510X 1878-5883
DOI:	10.1016/j.jns.2020.116909