Cognitive dysfunction and psychosis: expanding the phenotype of SPG7

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.

KEYWORDS:

• Hereditary spastic paraplegia
• SPG7
• cognition
• psychosis
• cerebellar cognitive affective syndrome

Acknowledgments

The authors received no financial support for the research, authorship, and/or publication of this article. We thank the patient and her family for their cooperation.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Author contributions

Soares provided the clinical data from patient. Carvalho analyzed the genetic data. Soares and Carvalho wrote the manuscript and prepared the figure and the table. Feder revised the manuscript. Ciarlariello provided case review. All authors read and approved the final manuscript.

Data availability statement

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. https://[email protected]