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Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia
Author(s) -
Yamashita Toru,
Takahashi Yoshiaki,
Tsunoda Keiichiro,
Nomura Emi,
Shang Jingwei,
Sato Kota,
Takemoto Mami,
Hishikawa Nozomi,
Ohta Yasuyuki,
Abe Koji
Publication year - 2018
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12178
Subject(s) - medicine , cerebellar ataxia , ataxia , cerebellar vermis , atrophy , cerebellum , missense mutation , external ophthalmoplegia , ptosis , anatomy , pathology , phenotype , ophthalmology , genetics , biology , psychiatry , mitochondrial dna , gene
A 70‐year‐old women presented classical CEFOM 1 phenotypes such as bilateral ptosis and external ophthalmoplegia, but also progressive cerebellar ataxia, carrying a previously reported heterozygous missense mutation of KIF 21A p.Arg941Gln. The present case is the first report of CFEOM 1 showing cerebellar atrophy with hypoperfusion, mainly of the vermis, indicating that cerebellar function should be carefully evaluated in CFFOM 1 patients.