Neuroradiological findings in hereditary spastic paraplegia with a thin corpus callosum

Ohnishi, Jiro; Tomoda, Youji; Yokoyama, Kazumasa

doi:10.1111/j.1600-0404.2001.00032.x

Cited by 14 publications

(6 citation statements)

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“…This finding agrees with previous single photon emission computed tomography using N-isopropyl-(iodine-123)p-iodoamphetamine, pathological, and MRI morphometry studies showing reduced blood flow, neuronal loss, gliosis, and atrophy in the thalamus (13,18,10,24).…”

Section: Discussionsupporting

confidence: 92%

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes

Oğuz¹,

Sanverdi²,

Has³

et al. 2012

Diagn Interv Radiol

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NEURORADIOLOGYORIGINAL ARTICLE PURPOSE We aimed to investigate white matter diffusivity abnormalities in hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) patients in relation with electrophysiological findings. MATERIALS AND METHODSBrain magnetic resonance imaging (MRI) and diffusion tensor imaging were performed on four HSP-TCC patients and 15 age-matched healthy subjects. Voxel-wise statistical analysis of fractional anisotropy, axial diffusivity, radial diffusivity, and mean diffusivity maps were carried out using tract-based spatial statistics, and significantly affected voxels were labeled using a human white matter atlas. Conventional nerve conduction studies, cortical and spinal-root motor evoked potentials, and somatosensory evoked potentials were examined in three patients. RESULTSOn MRI, all patients had a thin corpus callosum with mild T2 hyperintensity in the periventricular white matter. Compared to control subjects, we detected widespread significant decreases in fractional anisotropy, and increases in axial diffusivity, radial diffusivity, and mean diffusivity in structures including in the corpus callosum, motor, and non-motor white matter tracts in HSP-TCC patients. Several different regions showed significant reduction in axial diffusivity. Electrophysiological studies revealed prolonged central motor conduction times and reduced cortical motor evoked potentials and somatosensory evoked potentials amplitudes in all patients. One patient had low sural sensory nerve action potential suggestive of axonal neuropathy. CONCLUSION Tract-based spatial statistics of diffusion tensor imaging revealed a more widespread involvement of white matter in HSP-TCC patients than has previously been detected by conventional MRI. This may explain the broad spectrum of electrophysiological and neurological abnormalities that complicate hereditary spastic paraplegia in these patients. Hereditary spastic paraplegia (HSP) describes a group of neurodegenerative disorders that can either be pure (isolated HSP), with progressive spasticity, or complicated. HSP is classified as "complicated" when it co-occurs with other abnormalities such as mental and cognitive changes, optic atrophy, amyotrophy, ataxia, deafness, ichthyosis, and peripheral neuropathy (1, 2). In autosomal recessive HSP with thin corpus callosum (HSP-TCC), a form of complicated HSP, a patient typically has normal early motor and mental development followed by progressive spastic paraparesis, cognitive impairment, sensory disturbances, and ataxia during the second decade of life (3). First described by Iwabuchi et al. (4), HSP-TCC has been genetically linked to the SPG11 locus 15q13-15 , although some heterogeneity has been described (5).There are a few studies in the published literature describing the morphological, pathological, and imaging features of a limited number of HSP-TCC patients. The main feature of HSP-TCC seen on structural magnetic resonance imaging (MRI) is marked thinning of the corpus callosum; this is especially prominen...

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Section: Discussionsupporting

confidence: 92%

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes

Oğuz¹,

Sanverdi²,

Has³

et al. 2012

Diagn Interv Radiol

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“…Notably, these subtle or diffuse signal alterations in supratentorial WM regions with increased signal intensity in T2‐weighted images still require the exclusion of leukodystrophies such as adrenoleukodystrophy. Furthermore, the involvement of the thalamus in SPG11 has been frequently observed and may contribute to the cognitive deficit 9, 34. Our positron emission tomography studies in conjunction with the one 1 H‐proton magnetic resonance spectroscopy indicate a progression of the metabolic dysfunction within the thalamic and frontal lobe regions.…”

Section: Discussionmentioning

confidence: 54%

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

Hehr

Bauer

Winner

et al. 2007

Annals of Neurology

113

121

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“…31 A longitudinal clinical and neuroradiologic follow-up demonstrated further decrease of relative cerebral blood flow in the thalamus or cerebral cortex suggestive of progressive thalamic and cerebral cortical involvement. 21,32 At the level of the spinal cord, studies by Sperfeld et al 33,34 showed significant atrophy of the upper spinal cord in patients with HSP compared with the controls, both at the cervical and thoracic levels. A study by Krabbe et al 7 demonstrated significant decrease in the anteroposterior diameter of the spinal cord at the T3 and T9 levels in patients with autosomal dominant pure HSP compared with controls, which corresponded neuropathologically to degeneration of the lateral corticospinal tracts, uncrossed pyramidal tracts, and fasciculus gracilis (posterior columns of the spinal cord) from the lumbar level up to the upper cervical level.…”

Section: Discussionmentioning

confidence: 99%

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

Hourani

El-Hajj²,

Barada³

et al. 2009

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:Hereditary spastic paraplegia (HSP) is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Previously described radiologic findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the spinal cord. In our study, we aimed to better characterize brain and spine MR imaging findings in a series of patients with HSP.

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Neuroradiological findings in hereditary spastic paraplegia with a thin corpus callosum

Cited by 14 publications

References 1 publication

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

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