Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease

Kassubek, Jan; Bretschneider, Volker; Sperfeld, Anne‐Dorte

doi:10.1016/j.jocn.2004.07.020

Cited by 28 publications

(16 citation statements)

References 6 publications

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“…This could be important in terms of understanding if the effects of Cx32 mutations may be more toxic to developing rather than adult oligodendrocytes. Nevertheless, the prominent expression of Cx29 (Kleopa et al 2004) and Cx31.3 (present report) in gray and not white matter does not match the observed CNS alterations in symptomatic CMT1X patients, in whom abnormalities are seen in the white matter (Kassubek et al 2005;Kleopa et al 2002;Paulson et al 2002;Taylor et al 2003). Because it overlaps with Cx32 in the white matter, Cx47 is a more likely target for functional effects of Cx32 mutants.…”

Section: Discussioncontrasting

confidence: 81%

Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutants

Sargiannidou

Ahn

Enriquez

et al. 2008

Neurobiology of Disease

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Murine oligodendrocytes express the gap junction (GJ) proteins connexin32 (Cx32), Cx47, and Cx29. CNS phenotypes in patients with X-linked Charcot-Marie-Tooth disease may be caused by dominant effects of Cx32 mutations on other connexins. Here we examined the expression of Cx31.3 (the human ortholog of murine Cx29) in human brain and its relation to the other oligodendrocyte GJ proteins Cx32 and Cx47. Furthermore, we investigated in vitro whether Cx32 mutants with CNS manifestations affect the expression and function of Cx31.3. Cx31.3 was localized mostly in the gray matter along small myelinated fibers similar to Cx29 in rodent brain and was coexpressed with Cx32 in a subset of human oligodendrocytes. In HeLa cells Cx31.3 was localized at the cell membrane and appeared to form hemichannels but no GJs. Cx32 mutants with CNS manifestations were retained intracellularly, but did not alter the cellular localization or function of co-expressed Cx31.3. Thus, Cx31.3 shares many characteristics with its ortholog Cx29. Cx32 mutants with CNS phenotypes do not affect the trafficking or function of Cx31.3, and may have other toxic effects in oligodendrocytes.

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Section: Discussioncontrasting

confidence: 81%

Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutants

Sargiannidou

Ahn

Enriquez

et al. 2008

Neurobiology of Disease

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“…Overall 7.1% of CMTX patients show CNS involvement (6)(7)(8)(9). Six male patients with CMTX have been described with transient CNS symptoms and symmetrical white matter lesions that later resolved (6)(7)(8).…”

Section: Discussionmentioning

confidence: 99%

“…Six male patients with CMTX have been described with transient CNS symptoms and symmetrical white matter lesions that later resolved (6)(7)(8). Recently one male patient with CMTX was described with permanent MRI signal abnormalities at the level of the corticospinal tract (9). It is possible that GJB1 mutations might lead to white matter abnormalities and CNS symptoms due to chronic demyelination because GJB1 is expressed in oligodendrocytes (9).…”

Section: Discussionmentioning

confidence: 99%

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

et al. 2007

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“…24 In addition, CST signal-intensity changes do not correlate with clinical scores. 17 More remarkably, CST hyperintensities have also been described in healthy subjects, 20 and in patients with other conditions, such as Krabbe disease, 25 X-linked Charcot-Marie Tooth neuropathies, 26 and adrenomyeloneuropathy. 27 In patients with ALS, a characteristic low signal intensity (hypointense rim) of the precentral cortex on T2-weighted images can be observed (Fig 1E).…”

Section: Conventional Mr Imaging Findingsmentioning

confidence: 93%

The Present and the Future of Neuroimaging in Amyotrophic Lateral Sclerosis

Agosta¹,

Chiò²,

Cosottini³

et al. 2010

AJNR Am J Neuroradiol

117

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SUMMARY:In patients with ALS, conventional MR imaging is frequently noninformative, and its use has been restricted to excluding other conditions that can mimic ALS. Conversely, the extensive application of modern MR imagingϪbased techniques to the study of ALS has undoubtedly improved our understanding of disease pathophysiology and is likely to have a role in the identification of potential biomarkers of disease progression. This review summarizes how new MR imaging technology is changing dramatically our understanding of the factors associated with ALS evolution and highlights the reasons why it should be used more extensively in studies of disease progression, including clinical trials.ABBREVIATIONS: ALS ϭ amyotrophic lateral sclerosis; ALSFRS ϭ ALS Functional Rating Scale; Cho ϭ choline; Cr ϭ creatine; CST ϭ corticospinal tract; DTI ϭ diffusion tensor imaging; FA ϭ fractional anisotropy; FLAIR ϭ fluid-attenuated inversion recovery; fMRI ϭ functional MR imaging; FTD ϭ frontotemporal dementia; FUS/TLS ϭ fused in sarcoma/translocated in liposarcoma gene; GM ϭ gray matter; 1 H-MR spectroscopy ϭ proton MR spectroscopy; L ϭ left; LMN ϭ lower motor neuron; MD ϭ mean diffusivity; mIns ϭ myo-inositol; MT ϭ magnetization transfer; MTR ϭ MT ratio; NAA ϭ N-acetylaspartate; ns ϭ not significant; PD ϭ proton density; R ϭ right; SOD1 ϭ superoxide dismutase 1; SPM ϭ statistical parametric mapping; TDP-43 ϭ TAR DNA-binding protein gene; UMN ϭ upper motor neuron; VBM ϭ voxel-based morphometry; WM ϭ white matter A LS, also known as motor neuron disease, is a neurodegenerative disorder characterized by a progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, brain stem, and spinal cord. The phenotypic expression of ALS is highly heterogeneous and determined by 4 elements: 1) body region of onset, 2) relative mix of UMN and LMN involvement, 3) rate of progression, and 4) cognitive impairment.1 In approximately 5%-10% of patients, the disease is inherited; 20% of these individuals have a mutation of the SOD1 gene; approximately 2%-5%, of the TARDBP (TDP-43) gene; and 2%-4%, of the FUS/TLS gene. 2Most patients with ALS, however, have no obvious family history and have sporadic ALS.2 To date, the only specific marker of sporadic ALS is the presence of inclusions staining positively for ubiquitin and TDP-43 in degenerating motor neurons. 3Despite technical advances in medicine in the last century, the diagnosis of sporadic ALS relies on the interpretation of clinical symptoms and signs (ie, signs suggestive of combined UMN and LMN degeneration, together with disease progression compatible with a neurodegenerative disorder). Paraclinical and laboratory tests are used only to exclude "ALS-mimic" syndromes. 4,5 In ALS, the absence of a disease marker for UMN and LMN involvement has 2 main negative consequences. First, the delay from onset of the disease to diagnosis of ALS can vary between 13 and 18 months 6,7

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Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease

Cited by 28 publications

References 6 publications

Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutants

Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutants

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

The Present and the Future of Neuroimaging in Amyotrophic Lateral Sclerosis

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