Multiple sclerosis and related disorders · 2019
A special association between Charcot-Marie-Tooth type 1A disease and relapsing remitting multiple sclerosis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Doğan Yahya, Gül Şule, Ceylan Ahmet Cevdet, Kutsal Yeşim Gökçe
Аннотация
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.
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.