ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation
ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation
复制标题
DOI：
10.1002/mds.22947
复制
发表时间：
2010-06-15
影响因子：
8.6
通讯作者：
Bhatia, Kailash P.
中科院分区：
文献类型：
--
作者：
Schneider, Susanne A.;Paisan-Ruiz, Coro;Bhatia, Kailash P.
Kufor Rakeb病(KRD，PARK9)是一种常染色体隐性遗传性锥体外系-锥体外系综合征，由ATP13A2基因突变引起的全身性脑萎缩。我们报告的临床细节和调查结果集中在一个基因证实的KRD病例的放射学发现。临床表现为左旋多巴反应性肌张力障碍-帕金森综合征，伴有锥体体征和眼球运动异常。脑部MRI显示双侧广泛萎缩，壳核和尾状核铁蓄积。我们的发现将KRD添加到神经退行性变伴脑铁蓄积(NBIA)综合征组中。对于脑部影像有铁质的肌张力障碍-帕金森综合症患者，应该考虑KRD，我们建议将其归类为NBIA 3型。(C)2010年运动障碍协会
Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. (C) 2010 Movement Disorder Society