New therapies for tuber-less sclerosis: white matter matters?

نویسندگان

  • Kevin C Ess
  • E Steve Roach
چکیده

557 GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy P. Striano, Y.G. Weber, M.R. Toliat, J. Schubert, C. Leu, R. Chaimana, S. Baulac, R. Guerrero, E. LeGuern, A.-E. Lehesjoki, A. Polvi, A. Robbiano, J.M. Serratosa, R. Guerrini, P. Nürnberg, T. Sander, F. Zara, H. Lerche, and C. Marini; on behalf of the EPICURE Consortium Editorial, p. 524 563 Domain-dependent clustering and genotypephenotype analysis of LGI1mutations in ADPEAF Y.-Y. Ho, I. Ionita-Laza, and R. Ottman

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Cystlike white matter lesions in tuberous sclerosis.

PURPOSE To investigate the presence of small cystlike structures in the cerebral hemispheric white matter on MR images of patients with tuberous sclerosis. METHODS The MR images of 18 consecutive patients with tuberous sclerosis were reviewed retrospectively. RESULTS Eight of the 18 patients were found to have cystlike structures in the cerebral white matter. The signal intensity of these l...

متن کامل

Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis.

BACKGROUND Neuroimaging studies of tuberous sclerosis complex (TSC) have previously focused mainly on tubers or subependymal nodules. Subtle pathological changes in the structure of the brain have not been studied in detail. Computationally intensive techniques for reliable morphometry of brain structure are useful in disorders like TSC, where there is little prior data to guide selection of re...

متن کامل

Diffusion tensor imaging of commissural and projection white matter in tuberous sclerosis complex and correlation with tuber load.

BACKGROUND AND PURPOSE Cortical and white matter changes have been identified outside the MR imaging-visible cortical/subcortical tubers in the tuberous sclerosis complex. The aim of this study was to evaluate DTI changes in the corpus callosum and internal capsules and to correlate the DTI changes with cortical/subcortical tuber load. MATERIALS AND METHODS Twelve TSC patients and 23 controls...

متن کامل

Primary-progressive multiple sclerosis.

About 10-15% of patients with multiple sclerosis (MS) present with gradually increasing neurological disability, a disorder known as primary-progressive multiple sclerosis (PPMS). Compared with relapse-onset multiple sclerosis, people with PPMS are older at onset and a higher proportion are men. Inflammatory white-matter lesions are less evident but diffuse axonal loss and microglial activation...

متن کامل

Grey matter atrophy in patients suffering from multiple sclerosis.

White matter lesions are defining characteristics of multiple sclerosis (MS), whereas grey matter involvement is a less recognised attribute. Recent investigations using dedicated imaging approaches have made it possible to depict cortical lesions. Additionally, grey matter atrophy may be estimated using various methods. Several studies have suggested that grey matter atrophy closely correlates...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Neurology

دوره 78 8  شماره 

صفحات  -

تاریخ انتشار 2012