Cognitive dysfunction and psychosis: expanding the phenotype of SPG7.

Autor:	Soares IFZ; Department of Neurosciences, Centro Universitário FMABC, Santo Andre, São Paulo, Brazil., Ciarlariello VB; Department of Neurology, Universidade Federal De São Paulo, São Paulo, Brazil., Feder D; Department of Neurosciences, Centro Universitário FMABC, Santo Andre, São Paulo, Brazil., Carvalho AAS; Department of Neurosciences, Centro Universitário FMABC, Santo Andre, São Paulo, Brazil.
Jazyk:	angličtina
Zdroj:	Neurocase [Neurocase] 2021 Jun; Vol. 27 (3), pp. 253-258. Date of Electronic Publication: 2021 May 18.
DOI:	10.1080/13554794.2021.1927114
Abstrakt:	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.
Databáze:	MEDLINE
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