Cognitive dysfunction and psychosis: expanding the phenotype of SPG7. Issue 3 (4th May 2021)

• Record Type: Journal Article
• Authors: Soares, Izadora Fonseca Zaiden; Ciarlariello, Vinicius Boaratti; Feder, David; Carvalho, Alzira Alves De Siqueira
• Is Part Of: Neurocase. Volume 27:Issue 3(2021)
• Page Start: 253
• Page End: 258
• Publication Date: 2021-05-04
• Subjects: Hereditary spastic paraplegia -- SPG7 -- cognition -- psychosis -- cerebellar cognitive affective syndrome; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1927114
• Languages: English
• ISSNs: 1355-4794

Abstract

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.