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

[alexander disease]

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 late-onset 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 pseudo-bulbar 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 .

Diseases
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Diseases presenting "infantile form" symptom

alexander disease

gm1 gangliosidosis

krabbe disease

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

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