Autosomal dominant spinocerebellar ataxias ad infinitum?
Autosomal dominant spinocerebellar ataxias ad infinitum?
复制标题
常染色体显性脊髓小脑共济失调无限期？
作者：
S. Subramony;A. Filla
遗传性共济失调一直是临床医生的噩梦。分子遗传学家已经记录了进行性常染色体显性共济失调的遗传异质性，现在将其标记为“脊髓小脑共济失调”（SCA），并后面跟有为每个新基因位点指定的编号。在本期《神经病学》中，O’Hearn 等人1 讨论了与 1999 年 12 月首次描述的 SCA 12 突变相关的表型，2 Worth 和 Wood3 记录了英国转诊机构患者中这种突变的罕见情况。基因发现的速度令人眼花缭乱，该列表已增至 16 个（表 1）。该表不包括与通道蛋白点突变相关的显性遗传性发作性共济失调 (EA)； EA 2，...
The inherited ataxias have always been a clinician’s nightmare. Molecular geneticists have documented the genetic heterogeneity of progressive autosomal dominant ataxias, which are now labeled “spinocerebellar ataxia” (SCA) and are followed by a number assigned for each new gene locus. In this issue of Neurology , O’Hearn et al.1 address the phenotype associated with the SCA 12 mutation first described in December 1999,2 and Worth and Wood3 document the rarity of this mutation among patients at a referral institution in the UK. The dizzying pace of gene discovery is such that the list has already grown to 16 ( table 1). The table does not include the dominantly inherited episodic ataxias (EA) related to point mutations in channel proteins; EA 2, …
影响因子：
30.8
作者：
Koob, MD;Moseley, ML;Ranum, LPW
通讯作者：
Ranum, LPW
常染色体显性脊髓小脑共济失调伴感觉轴突神经病 (SCA4)：临床描述和染色体 16q22.1 的遗传定位。
影响因子：
9.8
作者：
Flanigan,K;Gardner,K;Alderson,K;Galster,B;Otterud,B;Leppert,MF;Kaplan,C;Ptácek,LJ
通讯作者：
Ptácek,LJ