Portal de Periódicos da CAPES

Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances

2007; Lippincott Williams & Wilkins; Volume: 68; Issue: 16 Linguagem: Inglês

10.1212/01.wnl.0000259543.95222.9d

1526-632X

Jemeen Sreedharan, Christopher E. Shaw, Józef Jarosz, Michael Samuel,

RNA and protein synthesis mechanisms

A recent article on Alexander disease (AxD)1 made note of the clinical and MRI phenotypic variation that is increasingly seen in this rare progressive leukodystrophy, particularly in late-onset and slowly progressive cases. AxD is caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), resulting in Rosenthal fiber deposition in astrocytes. It is most commonly seen in infants with sporadic mutations, who present with macrocephaly, seizures, and developmental delay. The disease progresses rapidly to death within 10 years. Adult-onset cases are phenotypically different with more brainstem involvement and slower progression and more likely to demonstrate autosomal dominant inheritance.1-3 The following case highlights previously undescribed features of adult-onset AxD. A 38-year-old woman was referred with a 2-year history of progressive difficulty reading with oscillopsia, slurring dysarthria, choking, and stumbling. Her early motor and intellectual development were normal, and she achieved a university degree. At age 32 she developed amenorrhea lasting 9 months, having previously had normal periods, and was …