Yahya Doğan1, Şule Gül2, Ahmet Cevdet Ceylan3, Yeşim Gökçe Kutsal2. 1. Hacettepe University Medical School, Department of Physical and Rehabilitation Medicine, Ankara, Turkey. Electronic address: yahyadogan111@hotmail.com. 2. Hacettepe University Medical School, Department of Physical and Rehabilitation Medicine, Ankara, Turkey. 3. Atatürk Training and Research Hospital, Department of Genetics, Yıldırım Beyazıt University, Ankara, Turkey.
Abstract
BACKGROUND: Central nervous system involvement has been reported in different subtypes of Charcot-Marie-Tooth (CMT) diseases. The increasing number of cases with CMT and MS may provide further information about the common pathway of demyelination and MS pathogenesis. CASE PRESENTATION: We report the case of a 21-year-old woman with CMT1A and MS. Bilateral rest and intention tremor, steroid associated psychotic episodes, and severe disability at an early age were unexpected aspects of this case. CONCLUSION: PMP22, the target protein in CMT1A, shares partial homology with other CNS proteins. PMP22 gene might be relevant to a common pathway of the demyelinating process.
BACKGROUND: Central nervous system involvement has been reported in different subtypes of Charcot-Marie-Tooth (CMT) diseases. The increasing number of cases with CMT and MS may provide further information about the common pathway of demyelination and MS pathogenesis. CASE PRESENTATION: We report the case of a 21-year-old woman with CMT1A and MS. Bilateral rest and intention tremor, steroid associated psychotic episodes, and severe disability at an early age were unexpected aspects of this case. CONCLUSION:PMP22, the target protein in CMT1A, shares partial homology with other CNS proteins. PMP22 gene might be relevant to a common pathway of the demyelinating process.