Scoditti U, Gemignani F, Colonna F, Ludovico L, Bettoni L
Institute of Neurology, University of Parma, Italy.
Acta Neurol Scand. 1993 Oct;88(4):251-3. doi: 10.1111/j.1600-0404.1993.tb04230.x.
Peroneal muscular atrophy (PMA) may be occasionally associated with other neurodegenerative features including parkinsonism. We report the association of PMA of neuronal type with parkinsonism, ptosis and congenital strabismus in a 62-year-old Sicilian woman. The complete syndrome was present only in the proband, but variously combined features were present in ten other family members over four generations, with likely autosomal dominant inheritance. Although a similar syndrome of PMA, ptosis, parkinsonism and dementia was already reported, this family showed a previously undescribed combination of features in view of the presence of congenital strabismus.
腓骨肌萎缩症（PMA）偶尔可能与包括帕金森症在内的其他神经退行性特征相关。我们报告了一名62岁西西里岛女性中神经元型PMA与帕金森症、上睑下垂和先天性斜视的关联。完整的综合征仅在先证者中出现，但在四代中的其他十名家庭成员中存在各种不同组合的特征，可能为常染色体显性遗传。尽管已经报道过一种类似的PMA、上睑下垂、帕金森症和痴呆综合征，但鉴于存在先天性斜视，这个家族表现出了一种先前未描述过的特征组合。
