Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?
Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?
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缓慢进行性小脑共济失调和颈肌张力障碍：新型脊髓小脑共济失调的临床表现？
DOI：
10.1002/mds.10308
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发表时间：
2003
影响因子：
8.6
通讯作者：
K. Bhatia
中科院分区：
文献类型：
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作者：
M. Kuoppamäki;P. Giunti;N. Quinn;N. Wood;K. Bhatia
我们描述了5例罕见的年轻发病，缓慢进行性小脑共济失调和颈部肌张力障碍的组合。2例为散发性，3例为家族性，其中2例来自一个家族。这些病例的发病年龄在16至37岁之间。临床表现为颈部肌张力障碍和/或肌张力障碍性头震颤3例，手或下肢震颤2例。在2例病例中，颈部肌张力障碍和/或肌张力障碍性头部震颤在小脑功能障碍发生前约6至10年发生，在3例病例中，它们同时发生。除颈部肌张力障碍外，2例患者有轻度肌张力障碍肢体受累，但未见全身性肌张力障碍。小脑性共济失调呈缓慢进行性。文献检索显示10例颈部肌张力障碍与遗传学未确定（n = 5）或遗传学证实（n = 5）的脊髓小脑共济失调（SCA）相关。当基因型已知时，这些患者患有SCA 3，6，7或12。然而，我们的5例病例（或其一级亲属）的SCA 1、2、3、6和7检测结果为阴性，而在4例病例（或其一级亲属）的SCA 12检测结果为阴性。我们认为，这种罕见的表现为小脑性共济失调和颈部肌张力障碍的组合表型可能代表了一种或多种新的，尚未表征的遗传性年轻发作的脊髓小脑性共济失调基因型。©运动障碍协会
We describe 5 cases with a rare combination of young‐onset, slowly progressive cerebellar ataxia and cervical dystonia. Two were sporadic, whereas the other 3 were familial, including 2 from one family. The age of onset of these cases was between 16 and 37 years. The presenting symptom was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first‐degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first‐degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young‐onset spinocerebellar ataxia. © Movement Disorder Society
明尼苏达州罗彻斯特肌张力障碍的流行病学。
影响因子：
--
作者：
Nutt,JG;Muenter,MD;Melton3rd,LJ;Aronson,A;Kurland,LT
通讯作者：
Kurland,LT