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).
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.
UR - http://www.scopus.com/inward/record.url?scp=85099990527&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85099990527&partnerID=8YFLogxK
U2 - 10.1038/s41439-021-00136-y
DO - 10.1038/s41439-021-00136-y
M3 - Article
AN - SCOPUS:85099990527
VL - 8
JO - Human Genome Variation
JF - Human Genome Variation
SN - 2054-345X
IS - 1
M1 - 4
ER -