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- Title
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
- Authors
Tozawa, Takenori; Nishimura, Akira; Ueno, Tamaki; Shikata, Akane; Taura, Yoshihiro; Yoshida, Takeshi; Nakagawa, Naoko; Wada, Takahito; Kosugi, Shinji; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro; Chiyonobu, Tomohiro
- Abstract
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.
- Subjects
FAMILIAL spastic paraplegia; MUSCLE hypotonia; RETINAL degeneration; PHENOTYPES; GENETIC disorders
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Case Study
- DOI
10.1038/s41439-021-00136-y