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Cognitive dysfunction and psychosis: expanding the phenotype of SPG7
Izadora Fonseca Zaiden Soares1, Vinicius Boaratti Ciarlariello2, David Feder1
1Department of Neurosciences, Centro Universitário FMABC, Santo Andre, São Paulo, Brazil.
Abstract:
Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia, which can lead to a hybrid spastic-ataxic phenotype. Recently, novel complicated forms of SPG7, including cognitive and social impairment phenotypes, have been reported. We present a SPG7 case with two pathogenic variants in compound heterozygosity in the SPG7 gene, featuring a cerebellar cognitive affective syndrome with psychosis not yet described in the literature.
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