A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia

Parkinsonism Relat Disord. 2016 Dec:33:151-152. doi: 10.1016/j.parkreldis.2016.10.010. Epub 2016 Oct 15.

Authors

K Malgireddy¹, R Thompson¹, D Torres-Russotto²

Affiliations

¹ Department of Neurological Sciences, University of Nebraska Medical Center, USA.
² Department of Neurological Sciences, University of Nebraska Medical Center, USA. Electronic address: [email protected].

PMID: 27793482
DOI: 10.1016/j.parkreldis.2016.10.010

No abstract available

Keywords: ADCK3; Adult-onset cerebellar ataxia; Autosomal recessive cerebellar ataxias (ARCA); CABC1; Coenzyme Q10.

Publication types

Case Reports
Letter

MeSH terms

Age of Onset
Aged, 80 and over
Cerebellar Ataxia / genetics*
Female
Gene Duplication
Humans
Mitochondrial Proteins / genetics*
Mutation

Substances

COQ8A protein, human
Mitochondrial Proteins