Asymptomatic adult Alexander's disease

Riggs, Jack E.; Schochet, Sydney S.; Nelson, J.

doi:10.1212/wnl.38.1.152

Cited by 27 publications

(19 citation statements)

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“…Previous reports on asymptomatic subjects [16,20,28,36] and patients affected by other neurological diseases [11,15,40,41,46] displaying the diffuse cerebral presence of Rosenthal fibers raised the question as to whether this neuropathological feature could be an unspecific pattern not uniquely related to AxD. However, the recent discovery of healthy relatives of patients affected by AxD carrying identical GFAP mutations, [2,5,24,25,29], as well as the serendipitous preclinical ascertainment by means of MRI in genetically proven AxD cases [13,25,35], strongly supports the view that AxD displays a wide spectrum of clinical expression, ranging from the severe and rapidly progressive infantile forms to those with minimal MRI abnormalities without neurological impairments.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2010

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2010

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“…In this form the Rosenthal fibers are found in areas of focal myelin degeneration and are associated with gliosis. Pa tients in the second group do not manifest focal neurologi cal signs [13][14][15]. In at least patient, however, there was a 1 -year course of progressive dementia and ataxia, making it difficult to regard this as asymptomatic [16], Diffuse Rosenthal fiber formation and varying degrees of myelin loss and gliosis are found at autopsy [ 1.…”

Section: Discussionmentioning

confidence: 99%

Biopsy Diagnosis of Familial Alexander’s Disease

Duckett

Schwartzman²,

Osterholm³

et al. 1992

Pediatr Neurosurg

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A 26-year-old woman presented with headaches, incordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourth ventricle. Neuronal loss, gliosis and masses of Rosenthal fibers were seen in biopsy. There was no evidence of neoplasm. A second biopsy 2 years later was similar to the original specimen. A diagnosis of Alexander’s disease was suggested. Later that year the patient’s 11-year-old brother manifested a clinical picture intially diagnosed as brainstem glioma, but whose biopsy was characteristic of Alexander’s disease. There has been a gradual deterioration of these siblings over the past 6 years (1986–1991). No evidence of neoplasm has appeared.

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“…10 There have been rare case reports of adults dying with a variety of systemic and neurological disorders who have been found at autopsy to have prominent Rosenthal fibre deposition, but without the clinical features or demyelinating lesions that are typical of Alexander's disease. [11][12][13] In these cases the distribution of Rosenthal fibres is predominantly perivascular, subependymal, and subpial in location, resembling that seen in Alexander's disease, but largely confined to the brain stem. To distinguish these cases from those of Alexander's disease, the term "Rosenthal fibre encephalopathy" has been suggested, despite the lack of consistent clinical findings.…”

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confidence: 99%

The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature

Jacob

2003

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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Asymptomatic adult Alexander's disease

Cited by 27 publications

References 0 publications

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

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

Biopsy Diagnosis of Familial Alexander’s Disease

The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature

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