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A case with CMTX1 disease showing transient ischemic-attack-like episodes
Zehra Aktan1, Nihan Hande Akcakaya2, Pinar Tekturk3
1Health Sciences University, Istanbul Fatih Sultan Mehmet Training and Research Hospital, Department of Neurology, Istanbul Turkey.
Neurologia I Neurochirurgia Polska
|November 21, 2017
Summary
This study details a rare case of Charcot-Marie-Tooth type 1 (CMTX1) in a 15-year-old male, presenting with stroke-like symptoms and peripheral neuropathy. It highlights the association between GJB1 gene mutations and central nervous system involvement in CMTX1.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders affecting peripheral nerves.
- CMTX1, an X-linked dominant subtype, results from mutations in the gap junction beta 1 gene (GJB1).
- While primarily peripheral, some GJB1 mutations are linked to central nervous system (CNS) abnormalities.
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