Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
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DOI：
10.1002/ana.23598
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发表时间：
2012-09
影响因子：
11.2
通讯作者：
Lossos, Alexander
中科院分区：
文献类型：
--
作者：
Mochel, Fanny;Schiffmann, Raphael;Steenweg, Marjan E.;Akman, Hasan O.;Wallace, Mary;Sedel, Frederic;Laforet, Pascal;Levy, Richard;Powers, J. Michael;Demeret, Sophie;Maisonobe, Thierry;Froissart, Roseline;Da Nobrega, Bruno Barcelos;Fogel, Brent L.;Natowicz, Marvin R.;Lubetzki, Catherine;Durr, Alexandra;Brice, Alexis;Rosenmann, Hanna;Barash, Varda;Kakhlon, Or;Gomori, J. Moshe;van der Knaap, Marjo S.;Lossos, Alexander
成人葡聚糖体病（APBD）是一种常染色体隐性遗传性脑白质营养不良，其特征是神经源性膀胱，进行性痉挛步态和周围神经病变。葡聚糖体在中枢和外周神经系统中积累，通常与糖原分支酶（GBE）缺乏有关。为了提高临床诊断水平，并使未来的治疗策略的评估，我们进行了一项多国研究的自然历史和影像学特征的APBD。我们收集了来自以色列、美国、法国和荷兰的50例GBE缺乏的APBD患者的临床、生化和分子研究结果。回顾了44例患者的脑和脊柱磁共振图像。最常见的临床表现是神经源性膀胱（100%），痉挛性截瘫伴振动丧失（90%）和轴突神经病（90%）。神经源性膀胱症状的发病年龄中位数为51岁，轮椅依赖性为63岁，死亡年龄为70岁。随着疾病的进展，轻度认知能力下降可能会影响多达一半的患者。神经影像学显示高信号白色物质异常的T2和液体衰减反转恢复序列主要在脑室周围区域，后肢的内囊，外囊，和锥体束和内侧丘系的脑桥和延髓。骨髓和脊柱的萎缩是普遍的。p.Y329S是最常见的GBE 1突变，表现为单一杂合（28%）或纯合（48%）突变。除了偶尔的例外，伴有GBE缺乏的APBD是一种临床上同质的疾病，在伴有早期泌尿系统症状和脊髓萎缩的成人脑白质营养不良或痉挛性截瘫患者中应予以怀疑。
Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD. We gathered clinical, biochemical, and molecular findings in 50 APBD patients with GBE deficiency from Israel, the United States, France, and the Netherlands. Brain and spine magnetic resonance images were reviewed in 44 patients. The most common clinical findings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal neuropathy (90%). The median age was 51 years for the onset of neurogenic bladder symptoms, 63 years for wheelchair dependence, and 70 years for death. As the disease progressed, mild cognitive decline may have affected up to half of the patients. Neuroimaging showed hyperintense white matter abnormalities on T2 and fluid attenuated inversion recovery sequences predominantly in the periventricular regions, the posterior limb of the internal capsule, the external capsule, and the pyramidal tracts and medial lemniscus of the pons and medulla. Atrophy of the medulla and spine was universal. p.Y329S was the most common GBE1 mutation, present as a single heterozygous (28%) or homozygous (48%) mutation. APBD with GBE deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy.
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影响因子：
2.2
作者：
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通讯作者：
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