Peters Nils, Kamm Christoph, Asmus Friedrich, Holinski-Feder Elke, Kraft Eduard, Dichgans Martin, Brüning Roland, Gasser Thomas, Bötzel Kai
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.
Mov Disord. 2006 Jan;21(1):98-102. doi: 10.1002/mds.20673.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.
脆性X相关震颤/共济失调综合征（FXTAS）是一种由FMR1基因前突变引起的成人起病的进行性震颤/共济失调综合征。在头颅磁共振成像（MRI）中，最具特征性的表现是双侧小脑中脚T2高信号病变。在此，我们报告一对患病兄弟的同胞对，他们表现出非常不同的症状（典型的FXTAS与特发性震颤样症状）、疾病进展和MRI表现，说明了FXTAS在家族内的广泛变异性。此外，他们的家族史提示了FXTAS在女性中可能表现的进一步证据。
