Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu

研究成果: Article査読

抄録

Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness.

本文言語English
論文番号4
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータスPublished - 2021 12

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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