Hereditary spastic paraplegia with a thin corpus callosum

Abstract

We report a 15-year-old boy with autosomal recessive complicated hereditary spastic paraplegia with a thin corpus callosum (HSP-TCC). The involvement of the corpus callosum was characteristic with the genu and body predominantly affected with relative sparing of the splenium. HSP-TCC is being increasingly recognized over a wider geographical area than earlier believed. We now report a case of HSP-TCC from the Indian subcontinent.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum

“…2), which is also consistent with Casali et al [17] Other abnormalities include cortical atrophy, hyperintensity in the periventricular white matter (PWM) and ventricular dilation gradually progressed with disease progression (Fig. 2), [17,18,31] also support the hypothesis.…”

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

“…It was predominant in the posterior aspect of the corpus callosum (Fig 1B) and was associated with white matter changes in the posterior corona radiata and peritrigonal areas, in contrast to the cases described by Teive et al 20 and Somasundaram et al, 28 where the thinning was mainly along the anterior aspect of the corpus callosum and associated with frontal lobe atrophy. Nevertheless, in all our patients, there was a relationship between the location and severity of white matter changes and the atrophy of the corpus callosum, suggestive of an atrophic process of the corpus callosum.…”

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene (SPG11) on Chromosome 15

“…However, the inspection of some published images of T2‐weighted MRI on HSP‐TCC shows the finding of increased signal intensity in the region of the forceps minor. Specifically, it can be seen on Fig 2 of Teive et al, 17 on Figs 1 and 2 of Kang et al, 18 and in Fig 1 of Somasundaram et al 7 White matter abnormalities in the frontal lobe are only mentioned in the last publication, with a FLAIR image, possibly because the other publications show only conventional T2‐weighted images, which show poorly the hyperintense change at the angle of the ventricle. We also found it difficult to detect these lesions on conventional T2‐weighted images, whereas they could be seen easily on FLAIR images (Fig 2).…”

“…Magnetic resonance imaging (MRI) shows a thin corpus callosum 1 . The periventricular white matter has shown non‐specific abnormalities in patients with similar syndromes, some with still undetermined mutations, 4–8 and others with recently identified mutations in the Spastic Paraparesis Gene 11 ( SPG11 ), on chromosome 15 2,3,9,10 . Mutations of SPG11 , coding for the protein known as spatacsin , are present in about 60% of the patients with a progressive spastic paraparesis, a thin corpus callosum, and cognitive impairment 2,3,11 .…”