A case of spastic paraplegia type 11 with a variation in the SPG11 gene

• Main Authors: Muhsin Elmas, Basak Gogus, Banu Değirmenci, Mustafa Solak, J. G. Gleeson
• Format: Article
• Language: English
• Published: SpringerOpen 2020-07-01
• Series: Egyptian Journal of Medical Human Genetics
• Subjects: Spastic Paraplegia; Hereditary; Corpus callosum dysgenesis; Intellectual disability
• Online Access: http://link.springer.com/article/10.1186/s43042-020-00072-6

Abstract Background Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardation, peripheral neuropathy, pseudobulbar symptoms, and increased reflexes in the upper limbs. We describe the clinical, laboratory, and radiological presentation of SPG11 through a report of a case and compare with previously reported SPG11 cases in the literature. Case presentation This case presents a homozygous variant in the SPG11 gene (NM_025137.4): c.1699C>T;p.(Gln567*). Conclusion The diagnosis was made based on molecular findings, thinning of corpus callosum (TCC) and in most cases, periventricular white matter abnormalities are detected in brain MRI. Therefore, the clinical and radiological findings are supporting the diagnosis. However, it should not be forgotten that TCC is not peculiar to SPG11.