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Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease
Author(s) -
Huttner H. B.,
Richter G.,
Hildebrandt M.,
Blümcke I.,
Fritscher T.,
Brück W.,
Gärtner J.,
Seifert F.,
Staykov D.,
Hilz M.J.,
Schwab S.,
Bardutzky J.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2007.01961.x
Subject(s) - medicine , glial fibrillary acidic protein , pathology , magnetic resonance imaging , disease , histology , radiology , immunohistochemistry
Since genetic analysis of the GFAP gene for the diagnosis of adult Alexander disease (AD) has been established in 2001, several cases of both sporadic and familial cases of AD have been described. Except for one patient, all subjects revealed glial fibrillary acidic protein (GFAP) mutations, and clinical progression of symptoms, mainly bulbar and pseudobulbar, were moderate. Here we report on a patient with acute onset of vegetative symptoms, rapid progression, and death within 2 months. Although histology and final magnetic resonance imaging (MRI) were characteristic of AD, sequencing of the encoding GFAP gene revealed no mutation. We believe that this case report expands the so far known clinical spectrum and MRI dynamics of adult AD, and suggest that analysis of the coding part of GFAP may be inconclusive in rare cases. In such patients, only histology may lead to definitive diagnosis.