Assuntos
Hidrocefalia de Pressão Normal/diagnóstico , Hidrocefalia de Pressão Normal/terapia , Demência/etiologia , Diagnóstico Diferencial , Diagnóstico por Imagem/métodos , Transtornos Neurológicos da Marcha/etiologia , Humanos , Hidrocefalia de Pressão Normal/epidemiologia , Incontinência Urinária/etiologiaRESUMO
We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, ataxia score, age, and sex. Little overlap with normal values was found even at earliest stages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutamine size and less by disease duration, whereas the reverse was found for ataxia score. Saccade velocity thus is a sensitive, quite specific, and objective endophenotype, useful to search polyglutamine modifier genes.
Assuntos
Peptídeos/fisiologia , Movimentos Sacádicos/fisiologia , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Peptídeos/genética , Movimentos Sacádicos/genética , Ataxias Espinocerebelares/genéticaAssuntos
Hemoglobinúria Paroxística/complicações , Trombose Intracraniana/etiologia , Adulto , Isquemia Encefálica/patologia , Angiografia Cerebral/métodos , Infarto Cerebral/etiologia , Infarto Cerebral/patologia , Feminino , Seguimentos , Hemoglobinúria Paroxística/patologia , Humanos , Trombose Intracraniana/patologia , Imageamento por Ressonância Magnética/métodosRESUMO
Erdheim-Chester disease is a rare systemic non-Langerhans histiocytosis of unknown etiology that affects multiple organ systems. Cerebral involvement is most often caused by extra-axial masses of foamy histiocytes, whereas intraparenchymal manifestations are less frequent. Review of the literature yielded a total of seven patients with increased signal intensities on T2-weighted images in both dentate nuclei and the peridentate regions. We report on a 44-year-old man with biopsy-proven Erdheim-Chester disease and slowly progressive cerebellar dysfunction. MRI showed additional symmetrical hyperintense signal changes in the superior cerebellar peduncle as well as in the trigonum lemnisci on coronal FLAIR images. The widespread neurological manifestations of cerebral Erdheim-Chester disease and differential diagnosis are discussed.
