Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy.

Neuronal ceroid lipofuscinoses (NCLs) represent a group of common hereditary childhood neurodegenerative storage disorders that have no effective treatment. Mutations in eight different genes cause various forms of NCLs. Infantile NCL (INCL), the most lethal disease, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. The availability of Ppt1-knockout (Ppt1-...

Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report

INTRODUCTION Alexander disease is a rare disorder resulting from a glial fibrillary acidic protein gene mutation which causes progressive degeneration of white matter. With the usual poor prognosis, there are few case reports with long-term follow-up. We report the five-year clinical course of Alexander disease in one case using serial magnetic resonance imaging. CASE PRESENTATION A 12-month-...

Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in ...

Infantile Beri-Beri

Software Tools for the Analysis of Functional Magnetic Resonance Imaging

Functional magnetic resonance imaging (fMRI) has become the most popular method for imaging of brain functions. Currently, there is a large variety of software packages for the analysis of fMRI data, each providing many features for users. Since there is no single package that can provide all the necessary analyses for the fMRI data, it is helpful to know the features of each software package. ...