Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia | Zendy

Yamashita Toru | Zendy; Takahashi Yoshiaki | Zendy; Tsunoda Keiichiro | Zendy; Nomura Emi | Zendy; Shang Jingwei | Zendy; Sato Kota | Zendy; Takemoto Mami | Zendy; Hishikawa Nozomi | Zendy; Ohta Yasuyuki | Zendy; Abe Koji | Zendy

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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

0

ISSN - 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.

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