Journal article
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease
Annals of neurology, Vol.52(4), pp.429-434
2002
DOI: 10.1002/ana.10305
PMID: 12325071
Abstract
X‐linked Charcot‐Marie‐Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene. Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. We have evaluated two male patients with CMTX who on separate occasions developed transient ataxia, dysarthria, and weakness within 3 days of returning from ski trips at altitudes above 8,000 feet. Magnetic resonance imaging studies in both patients showed nonenhancing, confluent, and symmetrical white matter abnormalities that were more pronounced posteriorly and that resolved over several months. Magnetic transfer images in one patient demonstrated increased magnetization transfer ratios distinct from that seen in demyelination or edema. Both patients returned to their normal baseline within 2 to 3 weeks. These cases suggest that CMTX patients are at risk for developing an acute, transient, neurological syndrome when they travel to places at high altitudes and return to sea level. Cx32 mutations may cause central nervous system dysfunction by reducing the number of functioning gap junctions between oligodendrocytes and astrocytes, making both cells more susceptible to abnormalities of intercellular exchange of ions and small molecules in situations of metabolic stress.
Details
- Title: Subtitle
- Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease
- Creators
- Henry L PAULSON - Department of Neurology, University of Iowa, Iowa City, IA, United StatesJames Y GARBERN - Department of Neurology, Wayne State University School of Medicine, Detroit, United StatesTimothy F HOBAN - Department of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI, United StatesKaren M KRAJEWSKI - Department of Neurology, Wayne State University School of Medicine, Detroit, United StatesRichard A LEWIS - Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, United StatesKenneth H FISCHBECK - National Institute of Neurological Disorders and Stroke, Neurogenetics, Bethesda, MD, United StatesRobert I GROSSMAN - Department of Radiology, New York University School of Medicine, New York, NY, United StatesRobert LENKINSKI - Harvard University Beth Israel Deaconess Medical Center, Boston, MA, United StatesJohn A KAMHOLZ - Department of Neurology, Wayne State University School of Medicine, Detroit, United StatesMichael E SHY - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
- Resource Type
- Journal article
- Publication Details
- Annals of neurology, Vol.52(4), pp.429-434
- Publisher
- Willey-Liss; Hoboken
- DOI
- 10.1002/ana.10305
- PMID
- 12325071
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- Language
- English
- Date published
- 2002
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020786702771
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