Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.

Nicholson, Garth A.; Corbett, A.D.

doi:10.1136/jnnp.61.1.43

Cited by 118 publications

(82 citation statements)

References 22 publications

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“…Hearing impairment and other central nervous system (CNS) symptoms have been reported in CMTX patients with several types of Cx32 mutations (Nicholson and Corbett 1996;Nicholson et al 1998;Bähr et al 1999;Stojkovic et al 1999). One of the common sural nerve findings in CMTX is a loss of myelinated fibers, especially large fibers, and thin myelination.…”

Section: X-linkedmentioning

confidence: 99%

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)

et al. 2001

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To clarify the pathomechanism in three patients with X-linked Charcot-Marie-Tooth disease (CMTX) and unique clinical features, we studied three connexin (Cx) 32 (GJB1) mutants with respect to cellular localization in cultured cells. Wild-type Cx32 and three Cx32 mutants (Val63Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of onion-bulb formations) were transfected to rat pheochromocytoma cells (PC12). We investigated the expression of Cx32 protein in each clone by immunoblotting and immunohistochemical staining. While Cx32 protein with the Arg22Gln mutation was detectable immunohistochemically only in the cytoplasm, Cx32 protein with the Val63Ile or Glu186Lys mutation was detected in both the plasma membrane and the cytoplasm. Cx32 protein with the wild-type sequence was detected mostly in the plasma membrane, with plaques indicating the existence of active gap junction formation. These three Cx32 mutations associated with CMTX patients with unique clinical and pathological findings caused altered trafficking of the Cx32 protein. These altered expressions indicated loss of active gap junction formation with different expression abnormalities in these CMTX patients.

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Section: X-linkedmentioning

confidence: 99%

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)

et al. 2001

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“…6 Although CNS symptoms are subclinical in most patients, some case reports have described patients with CMTX1 who presented with recurrent paralysis and reversible cerebral white matter lesions.…”

Section: Sectionmentioning

confidence: 99%

Clinical Reasoning: A young man with reversible paralysis, cerebral white matter lesions, and peripheral neuropathy

Liu¹,

Yang²,

Liu³

et al. 2012

Neurology

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A 17-year-old boy experienced 3 consecutive episodes of transient tetraplegia or monoparesis over the course of 5 days, after a week of low-grade fever. He was alert but had dysarthria and diplopia during the attacks. The paresis persisted for 5 to 7 hours and resolved completely.Three years prior, he had presented with a 1-day episode of transient right hemiparesis and dysarthria, and recovered completely without any treatment. At that time, cerebral MRI showed bilateral symmetric confluent hyperintense lesions in the parieto-occipital region and splenium and genu of the corpus callosum on T2-weighted images (figure). Three months later, these MRI abnormalities were markedly reduced (figure).Family history is significant for a maternal grandfather with progressive claudication since his 30s. He is 65 years old now, has amyotrophy in the lower limbs, but still can walk. He never received a diagnosis for these symptoms. The patient's mother denied any neuropathy.On examination, no abnormalities were found in his upper and lower limbs. The results of motor examination, including strength, tone, posture, involuntary movements, and reflexes, were normal. The sensory examination was unremarkable. Cerebral MRI showed white matter lesions in approximately the same distribution as on the MRI performed 3 years prior, but increased in severity (figure). These lesions spared the subcortical U-fibers and did not enhance.EMG performed 1 week after the onset showed prolonged distal motor latencies (median 10.6, ulnar 8.7 [ms, normal value Ͻ3. The sensory potential of the right sural nerve was not detected. These abnormalities suggested both myelin dysfunction and axonal damage. Laboratory tests, including electrolytes, lactate, and CSF, were all normal. Aortocranial angiography and EEG were normal. Questions for consideration:1. What is the differential diagnosis? 2. Virtually all categories of pathology may cause white matter lesions. Does the imaging appearance limit the differential diagnosis? SECTION 2The clinical features of this patient included cerebral white matter lesions, recurrent paralysis, and peripheral neuropathy. As the patient had confluent cerebral white matter lesions, acute disseminated encephalomyelitis (ADEM) and adrenoleukodystrophy were considered. ADEM is a demyelinating disease that is thought to be of autoimmune origin. It usually occurs after a recent infectious prodrome.

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“…Cx32 is also expressed in the central nervous system (CNS), in cell bodies and in processes of oligodendrocytes (Scherer et al 1995). This is of interest because subclinical CNS involvement shown by changes in visual evoked potentials (VEPs) and brainstem auditory evoked potentials (BAEPs) has been described (Nicholson and Corbett 1996;Bahr et al 1999;Seeman et al 2001;Taylor et al 2003). The hypothesis is that GJB1 mutations lead to a loss of normal cellular communication, which in turn may lead to myelinating Schwann cell dysfunction and peripheral neuropathy.…”

Section: Introductionmentioning

confidence: 99%

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

et al. 2008

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Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.

Cited by 118 publications

References 22 publications

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)

Clinical Reasoning: A young man with reversible paralysis, cerebral white matter lesions, and peripheral neuropathy

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

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