Parkinson hastalığının ailevi bir durumunda CHCHD2 p.P2L'nin varyantı, levodopa tedavisine kötü yanıtla: Bir vaka raporu

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Abstract Background Mutations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene have been reported successively in sporadic and familial PD patients, presenting typical manifestations of primary Parkinson's disease (PD) and sensitive to levodopa therapy. This provides more clues to the genetic component of PD. Case presentations We reported a case of familial PD with the p.P2L (c.5C > T) mutation with different manifestations, such as poor response to levodopa therapy, the presence of resting tremor and action tremor. Conclusions The case has a variant (cDNA c.5C > T, p.P2L) of CHCHD2 gene, and compared with previous studies, the clinical manifestations were distinctive, with poor response to levodopa treatment, and co-existing of resting tremor and action tremor.

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