遗传性特发性震颤发病年龄的预测

Anticipation of onset age in hereditary essential tremor.

作者信息

Bragoni M, Fabbrini G, Di Legge S, Altieri M, Di Piero V

机构信息

Dipartimento di Scienze Neurologiche; V Clinica Neurologica, Università degli Studi di Roma La Sapienza, Roma, Italy.

出版信息

Ital J Neurol Sci. 1997 Feb;18(1):45-7. doi: 10.1007/BF02106231.

DOI:10.1007/BF02106231

PMID:9115044

Abstract

The genetic anticipation phenomenon has been described in several neurological disorders, often associated with unstable trinucleotide repeats in the affected genes. The occurrence of this phenomenon in hereditary essential tremor is still debated. We describe a family in which three male members with essential tremor showed a progressive anticipation in onset age and an increased severity of clinical symptomatology.

摘要

遗传早现现象已在多种神经系统疾病中被描述，通常与受影响基因中不稳定的三核苷酸重复序列有关。遗传性特发性震颤中这种现象的发生仍存在争议。我们描述了一个家族，其中三名患有特发性震颤的男性成员在发病年龄上表现出逐渐提前的趋势，且临床症状的严重程度有所增加。