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The Clinical spectrum of late-onset Alexander disease: a systematic literature review

Balbi, Pietro and Salvini, Silvana and Fundarò, Cira and Frazzitta, Giuseppe and Maestri, Roberto and Mosah, Dibo and Uggetti, Carla and Sechi, Gianpietro (2010) The Clinical spectrum of late-onset Alexander disease: a systematic literature review. Journal of Neurology, Vol. 257 (12), p. 1955-1962. ISSN 0340-5354. eISSN 1432-1459. Article.

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DOI: 10.1007/s00415-010-5706-1


Following the discovery of glial fibrillary acidic protein (GFAP) mutations as the causative factor of Alexander disease (AxD), new case reports have recently increased, prompting a more detailed comprehension of the clinical features of the three disease subtypes (infantile, juvenile and adult). While the clinical pattern of the infantile form has been substantially confirmed, the lateonset subtypes (i.e., juvenile and adult), once considered rare manifestations of AxD, have displayed a wider clinical spectrum. Our aim was to evaluate the clinical phenotype of the adult and juvenile forms by reviewing the previously reported cases. Data were collected from previously published reports on 112 subjects affected by neuropathologically or genetically proven adult and juvenile Alexander disease. Although the late-onset forms of AxD show a wide clinical variability, a common pattern emerges from comparing previously reported cases, characterized by pseudobulbar signs, ataxia, and spasticity, associated with atrophy of the medulla and upper cervical cord on neuroimaging. Late-onset AxD cases can no longer be considered as rare manifestations of the disease. The clinical pattern usually reflects the topographic localization of the lesions, with adult cases displaying a predominant infratentorial localization of the lesions. Juvenile cases show clinical and radiological features which are intermediate between adult and infantile forms.

Item Type:Article
ID Code:6117
Uncontrolled Keywords:Systematic review, Alexander disease, GFAP, nosology, diagnostic criteria
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:001 Università di Sassari > 03 Istituti > Clinica neurologica
Publisher:Springer Berlin / Heidelberg
Copyright Holders:© Springer-Verlag 2010
Additional Information:The online version of this article contains supplementary material, which is available to authorized users.
Deposited On:08 Jun 2011 13:40

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