Abstract
In X-linked hereditary demyelinating neuropathies (CMTX), caused by mutations in Connexin 32, mild subclinical CNS involvement is not unusual. We present a young male patient suffering from genetically proven CMTX who presented with permanent bilateral corticospinal tract hyperintensities in cranial MRI -- a finding previously described to be characteristic for amyotrophic lateral sclerosis. MRI seems to be able to visualize corticospinal tract abnormalities, even if subclinical, in CMTX.
MeSH terms
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Adult
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Brain / pathology*
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Brain / physiopathology
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Charcot-Marie-Tooth Disease / diagnosis*
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Charcot-Marie-Tooth Disease / genetics
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Charcot-Marie-Tooth Disease / physiopathology
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Connexins / genetics
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DNA Mutational Analysis
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Evoked Potentials, Motor / genetics
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Gait Disorders, Neurologic / diagnosis
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Gait Disorders, Neurologic / genetics
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Gait Disorders, Neurologic / physiopathology
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Gap Junction beta-1 Protein
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Genetic Diseases, X-Linked / diagnosis*
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Genetic Diseases, X-Linked / genetics
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Genetic Diseases, X-Linked / physiopathology
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Genetic Predisposition to Disease / genetics
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Humans
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Magnetic Resonance Imaging
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Male
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Motor Neuron Disease / diagnosis*
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Motor Neuron Disease / genetics
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Motor Neuron Disease / physiopathology
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Mutation / genetics
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Nerve Fibers, Myelinated / pathology
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Neural Conduction / genetics
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Paraparesis / diagnosis
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Paraparesis / genetics
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Paraparesis / physiopathology
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Pyramidal Tracts / pathology*
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Pyramidal Tracts / physiopathology