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

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.

Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics

“…According to the results of neuropsychological assessment, executive function, attention and visual perception are especially disturbed [13]. The phenotype of the disease is complex and varies among family members [12][13][14]. Hereditary spastic paraplegia is characterised by high genetic heterogeneity, as all known forms of inheritance (autosomal dominant, autosomal recessive, X-linked and mitochondrial) are being reported in the literature [8,[14][15][16][17].…”

“…The phenotype of the disease is complex and varies among family members [12][13][14]. Hereditary spastic paraplegia is characterised by high genetic heterogeneity, as all known forms of inheritance (autosomal dominant, autosomal recessive, X-linked and mitochondrial) are being reported in the literature [8,[14][15][16][17]. Also, 13-40% of cases are sporadic, which means there is no family history [8].…”