Abstract
AbstractMost 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.
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Reference20 articles.
1. Beinert, H. & Kennedy, M. C. Aconitase, a two-faced protein: enzyme and iron regulatory factor. FASEB J. 7, 1442–1449 (1993).
2. Spiegel, R. et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am. J. Hum. Genet. 90, 518–523 (2012).
3. Fukada, M. et al. Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy. Mol. Genet. Genom. Med. 7, e00698 (2019).
4. Bouwkamp, C. G. et al. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurol. Genet. 4, e223 (2018).
5. Marelli, C. et al. ACO2 mutations: a novel phenotype associating severe optic atrophy and spastic paraplegia. Neurol. Genet. 4, e225 (2018).
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