ArticleJournal of neurology, neurosurgery, and psychiatry1996
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.
Article in Journal of neurology, neurosurgery, and psychiatry, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 120 citations in OpenAlex.
- Evaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026Article
- Assessment of blood-brain barrier leakage and brain oxygenation in Connexin-32 knockout mice with systemic neuroinflammation using pulse electron paramagnetic resonance imaging techniques.Magnetic resonance in medicine · 2024Article
- Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.Neuroradiology · 2022Article
- Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Axon-glia interactions in the ascending auditory system.Developmental neurobiology · 2021Review
- Cross-Sectional Study in a Large Cohort of Chinese Patients WithFrontiers in neurology · 2020Article
- The role of oligodendrocyte gap junctions in neuroinflammation.Channels (Austin, Tex.) · 2019Review
- Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.Acta neuropathologica communications · 2016Article
- Connexinopathies: a structural and functional glimpse.BMC cell biology · 2016Review
- A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.Neurogenetics · 2015Article
- Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).Acta neurologica Belgica · 2015Article
- A new mutation in GJC2 associated with subclinical leukodystrophy.Journal of neurology · 2014Article
- How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Brain research · 2012Review
- X-linked Charcot-Marie-Tooth disease.Journal of the peripheral nervous system : JPNS · 2012Review
- Gap junctions in inherited human disorders of the central nervous system.Biochimica et biophysica acta · 2012Review
- The role of gap junctions in Charcot-Marie-Tooth disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.Neurobiology of disease · 2011Article
- A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.Journal of neurology · 2011Article
- Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
- Gap junctions couple astrocytes and oligodendrocytes.Journal of molecular neuroscience : MN · 2008Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe most common form of CMT with slow nerve conduction velocities (CMT type I) is CMT1A, caused by a submicroscopic duplication of a region of DNA on chromosome 17 including the PMP22 gene. This gene is expressed in peripheral nerve but not in the CNS. The second most common form is CMTX, caused by mutations in the connexin32 gene in the X chromosome. Connexin32 is expressed both in brain and in peripheral nerve. These molecular variants are difficult to distinguish clinically.
methodsBrain stem auditory evoked responses (BAERs) were measured in patients with CTMX and CMT1A.
resultsBAERs showed central conduction slowing in male patients with CMTX which did not overlap the normal range. Patients with CMT1A had a delay in wave I latency but otherwise normal responses. These results are consistent with the pattern of expression of PMP22 in the peripheral portion of the eighth nerve (myelinated by Schwann cells) and of connexin32 in the central portion in the brainstem auditory pathways (myelinated by oligodendrocytes). This is the first evidence for central involvement in CMTX.
conclusionBAERs are useful to distinguish CMTX from CMT1A and may assist selection of appropriate patients for connexin32 mutation analysis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.