TY - JOUR
T1 - Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
AU - Tozawa, Takenori
AU - Nishimura, Akira
AU - Ueno, Tamaki
AU - Shikata, Akane
AU - Taura, Yoshihiro
AU - Yoshida, Takeshi
AU - Nakagawa, Naoko
AU - Wada, Takahito
AU - Kosugi, Shinji
AU - Uehara, Tomoko
AU - Takenouchi, Toshiki
AU - Kosaki, Kenjiro
AU - Chiyonobu, Tomohiro
N1 - Funding Information:
We thank the patient and her family members for their cooperation in this study. This work was supported by the Japan Agency for Medical Research and Development (grant number JP19ek0109301).
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
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U2 - 10.1038/s41439-021-00136-y
DO - 10.1038/s41439-021-00136-y
M3 - Article
AN - SCOPUS:85099990527
SN - 2054-345X
VL - 8
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 4
ER -