Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation
C Oliver Hanemann1, Carsten Bergmann, Jan Senderek
1Department of Neurology, University of Ulm, Ulm, Germany. oliver.hanemann@medizin.uni-ulm.de
Background:
X-linked hereditary demyelinating neuropathies (Charcot-Marie-Tooth Disease [CMTX]) caused by mutations in the connexin 32 (Cx32) gene account for approximately 10% to 20% of all hereditary demyelinating neuropathies. Mild subclinical central nervous system (CNS) involvement has been previously described, and CMTX patients with transient white matter lesions allied to CNS symptoms have very recently been described. This is of potential interest, as Cx32 is widely expressed in both peripheral nerve and the brain.
Patients:
We describe a family with hereditary demyelinating neuropathy and transient CNS symptoms. For this study, family members underwent genotyping and detailed clinical, electrophysiological, and magnetic resonance imaging examination.
Results:
We present a CMTX family with a novel mutation in the Cx32 gene. Affected family members show, in addition to the classic polyneuropathy, transient and reversible white matter lesions on magnetic resonance imaging scans, correlating similarly transient CNS symptoms.
Conclusion:
Patients with CMTX can present with transient CNS symptoms and marked white matter lesions on magnetic resonance imaging scans.
Insights
X-linked Charcot-Marie-Tooth disease (CMTX) patients can experience temporary central nervous system (CNS) symptoms. This is linked to reversible white matter lesions on MRI scans, associated with Cx32 gene mutations.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- X-linked hereditary demyelinating neuropathies, specifically Charcot-Marie-Tooth disease type X (CMTX), are caused by connexin 32 (Cx32) gene mutations.
- Cx32 mutations account for 10-20% of hereditary demyelinating neuropathies and Cx32 is expressed in both peripheral nerves and the brain.
Observation:
- A family with hereditary demyelinating neuropathy and transient CNS symptoms was studied.
- Members underwent genotyping, clinical, electrophysiological, and MRI examinations.
Findings:
- A CMTX family with a novel Cx32 mutation presented with classic polyneuropathy.
- Affected individuals exhibited transient CNS symptoms correlating with reversible white matter lesions on MRI scans.
Implications:
- CMTX patients may exhibit transient CNS symptoms and significant white matter changes on MRI.
- This highlights the potential for CNS involvement in CMTX, warranting further investigation into Cx32's role in the brain.
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