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

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) w...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838304/
https://www.ncbi.nlm.nih.gov/pubmed/33500398
http://dx.doi.org/10.1038/s41439-021-00136-y
Descripción
Sumario: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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