| Title |
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course
|
|---|---|
| Published in |
Neurological Sciences, June 2012
|
| DOI | 10.1007/s10072-012-1129-3 |
| Pubmed ID | |
| Authors |
Luisa Sambati, Raffaele Agati, Antonella Bacci, Silvia Bianchi, Sabina Capellari |
| Abstract |
We report the clinical description of an Italian patient with c.638A>G mutation in exon 5 of EIF2B2 gene and a very slow progressive Vanishing White Matter disease phenotype. Infact, in relation to her causative mutation, our patient had an unusual early onset and long course. Furthermore, other than standard MRI examination and spectroscopy study, we report DWI and ADC maps and FA maps reconstruction from DTI in order to describe brain tissue degeneration in vanishing white matter disease. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Unspecified | 2 | 13% |
| Student > Doctoral Student | 2 | 13% |
| Student > Bachelor | 2 | 13% |
| Researcher | 2 | 13% |
| Student > Ph. D. Student | 1 | 7% |
| Other | 3 | 20% |
| Unknown | 3 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 40% |
| Unspecified | 2 | 13% |
| Neuroscience | 2 | 13% |
| Computer Science | 1 | 7% |
| Psychology | 1 | 7% |
| Other | 0 | 0% |
| Unknown | 3 | 20% |