| Autor: |
Vale TC; From the Neurology Division (T.C.V.) and the Radiology Division (F.O.L.P.), University Hospital, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brazil., Perpétuo FO |
| Jazyk: |
angličtina |
| Zdroj: |
Neurology [Neurology] 2013 Nov 12; Vol. 81 (20), pp. e153. |
| DOI: |
10.1212/01.wnl.0000435559.06072.d6 |
| Abstrakt: |
Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD syndrome). It is caused by a mutation in the WFS1 gene (chromosome 4p16.1, involved in regulation of intracellular calcium) that encodes wolframin, a transmembrane protein of pancreatic β cells. WS1 is a rare disorder characterized by the development of insulin-dependent diabetes mellitus at an average age of 6 years, followed by optic atrophy (figure) at an average age of 11 and partial central diabetes insipidus and deafness in adolescence. Additional neurologic manifestations include truncal ataxia, myoclonus, epilepsy, nystagmus, and hyposmia.(1,2.) |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
