Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
复制标题
芬兰一个家族中成人发病的常染色体隐性共济失调伴丘脑病变
作者：
M. Rantamäki;Ralf Krahe;Anders Paetau;B. Cormand;Ilkka Mononen;B. Udd
目的：描述一种罕见的成人起病共济失调伴丘脑病变的脑MRI。方法：作者描述了该疾病的临床、实验室和病理特征，并寻求与先前发现的共济失调位点的联系。结果：两个姐妹和一个兄弟在30岁时出现进行性共济失调、构音障碍、轻度认知障碍和感觉运动神经病变，其中一个兄弟姐妹合并癫痫。MRI显示丘脑对称病变，脑干灰质改变，小脑白质改变。其中一名患者的尸检显示，在丘脑中出现了一种特殊的空泡改变的神经元变性，可能代表了对神经分化的反应的跨突触变性。在脊髓、小脑和脑干中观察到神经元和次级束变性，提示脊髓小脑变性。这种疾病似乎是一种常染色体隐性遗传特征。FRDA基因的遗传和序列分析以及综合实验室检查排除了弗里德赖希共济失调和其他类似的隐性疾病。结论：该家族成人隐性共济失调伴双侧丘脑病变可能是一种独特的遗传性脊髓小脑性共济失调。
Objective: To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI. Methods: The authors characterized clinical, laboratory, and pathologic features of the disease and sought linkage to previously recognized ataxia loci. Results: Two sisters and a brother developed progressive ataxia, dysarthria, mild cognitive impairment, and sensorimotor neuropathy at age 30, combined with epilepsy in one sibling. MRI showed symmetric thalamic lesions, changes in brainstem gray matter, and white matter changes in the cerebellum. Autopsy in one of the patients revealed neuronal degeneration with a peculiar vacuolar change in thalamus, probably representing transsynaptic degeneration in response to deafferentation. Neuronal and secondary tract degeneration was observed in the spinal cord, cerebellum, and brainstem suggesting a spinocerebellar degeneration. The disorder appears to be transmitted as an autosomal recessive trait. Genetic and sequence analysis of the FRDA gene and comprehensive laboratory examinations excluded Friedreich’s ataxia and other similar recessive diseases. Conclusion: Adult-onset recessive ataxia with bilateral thalamic lesions in this family may represent a distinct hereditary spinocerebellar ataxia.
影响因子：
30.8
作者：
Koob, MD;Moseley, ML;Ranum, LPW
通讯作者：
Ranum, LPW