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AJNR - American Journal of Neuroradiology

Published ahead of print on April 3, 2008
doi: 10.3174/ajnr.A1060

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American Journal of Neuroradiology 29:1190-1196, June-July 2008
© 2008 American Society of Neuroradiology

BRAIN

Can MR Imaging Diagnose Adult-Onset Alexander Disease?

L. Farina^a, D. Pareyson^b, L. Minati^a,c, I. Ceccherini^d, L. Chiapparini^a, S. Romano^e, P. Gambaro^f, R. Fancellu^b and M. Savoiardo^a

^a Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico "C. Besta," Milan, Italy
^b Departments of Biochemistry and Genetics, Fondazione IRCCS Istituto Neurologico "C. Besta," Milan, Italy
^c Department of Scientific Direction Unit, Fondazione IRCCS Istituto Neurologico "C. Besta," Milan, Italy
^d Laboratory of Molecular Genetics, Institute G. Gaslini, Genoa, Italy
^e Department of Neurology and Centre for Experimental Neurological Therapy, S. Andrea Hospital, University of Rome, Rome, Italy
^f the Clinica Neurologica L. Sacco Hospital, Milan, Italy

Please address correspondence to L. Farina, MD, Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico "C. Besta," Via Celoria 11, 20133 Milan, Italy; e-mail: lfarina{at}istituto-besta.it

BACKGROUND AND PURPOSE: In recent years, the discovery that mutations in the glial fibrillary acidic protein gene (GFAP) were responsible for Alexander disease (AD) brought recognition of adult cases. The purpose of this study was to demonstrate that MR imaging allows identification of cases of AD with adult onset (AOAD), which are remarkably different from infantile cases.

MATERIALS AND METHODS: In this retrospective study, brain and spinal cord MR imaging studies of 11 patients with AOAD (7 men, 4 women; age range, 26–64 years; mean age, 43.6 years), all but 1 genetically confirmed, were reviewed. Diffusion and spectroscopic investigations were available in 6 patients each.

RESULTS: Atrophy and changes in signal intensity in the medulla oblongata and upper cervical spinal cord were present in 11 of 11 cases and were the diagnostic features of AOAD. Minimal to moderate supratentorial periventricular abnormalities were seen in 8 patients but were absent in the 3 oldest patients. In these patients, postcontrast enhancement was also absent. Mean diffusivity was not altered except in abnormal white matter (WM). Increase in myo-inositol (mIns) was also restricted to abnormal periventricular WM.

CONCLUSIONS: Awareness of the MR pattern described allows an effective selection of the patients who need genetic investigations for the GFAP gene. This MR pattern even led to identification of asymptomatic cases and should be regarded as highly characteristic of AOAD.

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