Marco Sarà,Francesca Pistoia,Giuseppe Cernera et al.
Marco Sarà et al.
Rapid exacerbation in an elderly case of adult-onset X-linked adrenoleukodystrophy with cerebral corticospinal tract involvement [0.03%]
成人发病的X性连锁肾上腺脑白质退化病伴大脑皮质脊髓束受累的病情快速进展：一例报告
Tsunenori Saito,Tomoyuki Mizuno,Tomoji Watanabe et al.
Tsunenori Saito et al.
Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review [0.03%]
21三体嵌合与年轻型痴呆患者一例及文献综述
John M Ringman,P Nagesh Rao,Po H Lu et al.
John M Ringman et al.
Objective: To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21. Design: Case report of a single pa...
Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions [0.03%]
线粒体DNA缺失与MNGIE样综合征家族的异常脑葡萄糖代谢密切相关
Fritz-Georg Lehnhardt,Rita Horvath,Roland Ullrich et al.
Fritz-Georg Lehnhardt et al.
Objective: To determine the involvement of cerebral metabolism in 2 siblings with mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE)-like disease with multiple mitochondrial DNA (mtDNA) deletions. ...
Michio Hirano,Corrado Angelini,Pasquale Montagna et al.
Michio Hirano et al.
Background: Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects. ...
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity [0.03%]
突尼斯遗传性痉挛截瘫并智能减退和胼胝体变薄的神经影像学表现：SPG11与SPG15及相关基因异质性
Amir Boukhris,Giovanni Stevanin,Imed Feki et al.
Amir Boukhris et al.
Objective: To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). ...
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency [0.03%]
台湾六吡啶酸四氢生物喋呤合成酶缺乏症患者的长期随访研究
Kai-Ming Liu,Tze-Tze Liu,Ni-Chung Lee et al.
Kai-Ming Liu et al.
Objective: To report the long-term results of early initiation of treatment of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. Design: ...
Clinical Trial
Archives of neurology. 2008 Mar;65(3):387-92. DOI:10.1001/archneur.65.3.387 2008
A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1 [0.03%]
第四号染色体末端4pter-4p16.1上的原发性侧索硬化症的基因定位
Paul N Valdmanis,Nicolas Dupré,Guy A Rouleau
Paul N Valdmanis
Background: Primary lateral sclerosis (PLS) is an adult-onset upper motor neuron disease resulting in spinal and bulbar spasticity. A family with 8 individuals diagnosed with PLS was previously reported. ...
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders [0.03%]
酸性β-葡萄糖苷酶基因突变是路易体障碍的风险因素
Ignacio F Mata,Ali Samii,Seth H Schneer et al.
Ignacio F Mata et al.
Background: Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB). However, these findings have not been consistently replicated, a...
Multicenter Study
Archives of neurology. 2008 Mar;65(3):379-82. DOI:10.1001/archneurol.2007.68 2008