Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1 [0.03%]
POLG2和OPA1突变患者的进行性外部眼肌麻痹和视力听力下降
Silvio Ferraris,Susanna Clark,Emanuela Garelli et al.
Silvio Ferraris et al.
Objective: To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a muta...
Juvenile Alpers disease [0.03%]
青少年阿尔珀斯病
Esko Wiltshire,Guido Davidzon,Salvatore DiMauro et al.
Esko Wiltshire et al.
Background: Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children. Objective: ...
Brain volume decline in aging: evidence for a relation between socioeconomic status, preclinical Alzheimer disease, and reserve [0.03%]
衰老中的脑体积下降：终生社会经济地位，轻度认知损伤和阿尔茨海默病储备关系的证据
Anthony F Fotenos,Mark A Mintun,Abraham Z Snyder et al.
Anthony F Fotenos et al.
Objectives: To assess the relation between socioeconomic status (SES) and structural brain change in nondemented older adults and to ascertain the potential role of preclinical Alzheimer disease (AD). ...
Education and reported onset of symptoms among individuals with Alzheimer disease [0.03%]
教育与阿尔茨海默病患者的自述症状发作年龄之间的关系
Catherine M Roe,Chengjie Xiong,Elizabeth Grant et al.
Catherine M Roe et al.
Objectives: To examine whether reported age at onset of dementia symptoms among participants with Alzheimer disease (AD) is later for those with fewer years of education and, if so, to see if education is attributed to de...
Multicenter Study
Archives of neurology. 2008 Jan;65(1):108-11. DOI:10.1001/archneurol.2007.11 2008
Jordan E Axelrad,Elan D Louis,Lawrence S Honig et al.
Jordan E Axelrad et al.
Background: Clinical and functional imaging evidence suggests that cerebellar dysfunction occurs in essential tremor (ET). In recent postmortem studies, we documented increased numbers of torpedoes (Purkinje cell axonal s...
Magnetic resonance imaging white matter hyperintensities and brain volume in the prediction of mild cognitive impairment and dementia [0.03%]
磁共振成像的白质高信号和脑容量对轻度认知障碍和痴呆的预测作用
Eric E Smith,Svetlana Egorova,Deborah Blacker et al.
Eric E Smith et al.
Objective: To determine whether magnetic resonance imaging (MRI) white matter hyperintensities (WMH), whole-brain atrophy, and cardiovascular risk factors predict the development of cognitive decline and dementia. ...
Enhanced risk for Alzheimer disease in persons with type 2 diabetes and APOE epsilon4: the Cardiovascular Health Study Cognition Study [0.03%]
心血管健康研究认知研究中的2型糖尿病和APOE epsilon4与阿尔茨海默病风险增加有关
Fumiko Irie,Annette L Fitzpatrick,Oscar L Lopez et al.
Fumiko Irie et al.
Background: Diabetes and the apolipoprotein E epsilon4 allele (APOE epsilon4) increase the risk for Alzheimer disease (AD). We hypothesize that APOE epsilon4 may modify the risk for AD in individuals with diabetes. ...
Frédéric Blanc,Hélène Zéphir,Christine Lebrun et al.
Frédéric Blanc et al.
Background: Neuromyelitis optica (NMO) is characterized by optic neuritis and longitudinally extensive acute transverse myelitis. The brain is generally considered healthy in NMO, though very recent studies have demonstra...
Sean J Pittock,Vanda A Lennon,Jerome de Seze et al.
Sean J Pittock et al.
Background: Neuromyelitis optica (NMO) is often associated with other clinical or serological markers of non-organ-specific autoimmunity. Objective: ...
Mesial frontal epilepsy and ictal body turning along the horizontal body axis [0.03%]
沿水平身体轴的阵挛性躯体转动及皮层癫痫发作
Howan Leung,Kaspar Schindler,Hans Clusmann et al.
Howan Leung et al.
Objective: To evaluate the clinical utility of mesial frontal semiology. Design: Retrospective case series. ...