Marelli Cecilia, Salih Mustafa A, Nguyen Karine, Mallaret Martial, Leboucq Nicolas, Hassan Hamdy H, Drouot Nathalie, Labauge Pierre, Koenig Michel
Department of Neurology University Hospital Gui de Chauliac Montpellier France.
Division of Pediatric Neurology Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia.
Mov Disord Clin Pract. 2015 Feb 18;2(1):56-60. doi: 10.1002/mdc3.12118. eCollection 2015 Mar.
Mutations in the fatty-acid 2-hydroxylase () gene cause an autosomal recessive spastic paraplegia (SPG35), often associating with cerebellar ataxia; cerebral MRI may show iron accumulation in the basal ganglia, leading to the inclusion of SPG35 among the causes of neurodegeneration with brain iron accumulation. This finding was initially considered strongly relevant for diagnosis, although its frequency is not yet established. We found 5 novel patients (from two families) with mutations in the gene: none of them showed cerebral iron accumulation (T2-weighted images performed in all; T2 gradient-echo in 2); notably, in 1 case, iron accumulation was absent even after 18 years from disease onset on both T2 gradient-echo and susceptibility-weight MRI sequences. Cerebral iron accumulation is not a prominent feature in SPG35 and is not always dependent on disease duration; its absence should not discourage from evoking this diagnosis.
脂肪酸2-羟化酶（）基因突变会导致常染色体隐性遗传性痉挛性截瘫（SPG35），常伴有小脑共济失调；脑部磁共振成像（MRI）可能显示基底神经节有铁沉积，这使得SPG35被纳入脑铁沉积性神经退行性变的病因之中。这一发现最初被认为对诊断具有重要意义，尽管其发生频率尚未确定。我们发现了5名（来自两个家族）该基因突变的新患者：他们均未显示出脑铁沉积（所有人均进行了T2加权成像；2人进行了T2梯度回波成像）；值得注意的是，在1例患者中，即使在疾病发作18年后，T2梯度回波成像和磁敏感加权MRI序列均未显示铁沉积。脑铁沉积并非SPG35的显著特征，也不总是取决于病程；其不存在不应妨碍做出这一诊断。
