Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1. (February 2022)

• Record Type: Journal Article
• Authors: Herrmann, Laura; Gelderblom, Mathias; Bester, Maxim; Deininger, Natalie; Schütze, Thorsten; Hidding, Ute; Gross, Caspar; Buena-Atienza, Elena; Dufke, Claudia; Gerloff, Christian; Haack, Tobias B.; Zittel, Simone
• Is Part Of: Parkinsonism & related disorders. Volume 95(2022)
• Page Start: 54
• Page End: 56
• Publication Date: 2022-02
• Subjects: CANVAS -- Ataxia -- Motor neuron degeneration -- Spinal atrophy -- Cognitive impairment; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2022.01.001
• Languages: English
• ISSNs: 1353-8020

Abstract

Highlights: Biallelic RFC1 repeat expansions are a frequent cause of late-onset ataxia. Three out of four patients with RFC1 repeat expansion presented cognitive impairment. Spinal cord atrophy was noticed in all four CANVAS patients. The central motor conduction time was prolonged in one CANVAS patient. Pyramidal tract degeneration may be an additional feature of CANVAS.