Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia. Issue 2 (28th December 2017)

• Record Type: Journal Article
• Authors: Yamashita, Toru; Takahashi, Yoshiaki; Tsunoda, Keiichiro; Nomura, Emi; Shang, Jingwei; Sato, Kota; Takemoto, Mami; Hishikawa, Nozomi; Ohta, Yasuyuki; Abe, Koji
• Is Part Of: Neurology and clinical neuroscience. Volume 6:Issue 2(2018:Mar.)
• Page Start: 48
• Page End: 50
• Publication Date: 2017-12-28
• Subjects: cerebellar ataxia -- congenital fibrosis of the extraocular muscles type 1 -- KIF21A; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12178
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: A 70‐year‐old women presented classical CEFOM1 phenotypes such as bilateral ptosis and external ophthalmoplegia, but also progressive cerebellar ataxia, carrying a previously reported heterozygous missense mutation of KIF21A p.Arg941Gln. The present case is the first report of CFEOM1 showing cerebellar atrophy with hypoperfusion, mainly of the vermis, indicating that cerebellar function should be carefully evaluated in CFFOM1 patients.