Alexander's Disease: Unique Presentation

Gingold, Monique; Bodensteiner, John B.; Schochet, Sydney S.; Jaynes, Margaret

doi:10.1177/088307389901400510

Cited by 30 publications

(14 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[12][13][14][15][16][17][18] A case similar to ours that, clinically, metabolically, and neuroradiologically, was suggestive of Leigh's syndrome, turned out to be Alexander's disease after autopsy. 19 In retrospect, this child had shown clinical signs compatible with Alexander's disease, including psychomotor retardation and acquired megalencephaly. Furthermore, the MRI had met the criteria for an MRI-based diagnosis of Alexander's disease.…”

Section: Discussionmentioning

confidence: 93%

Atypical focal MRI lesions in a case of juvenile Alexander's disease

Probst

Hagel

Weisz

et al. 2002

Annals of Neurology

View full text Add to dashboard Cite

We present a juvenile case of Alexander's disease with atypical focal magnetic resonance imaging-detected lesions and elevated levels of lactate in cerebrospinal fluid. The diagnosis was based on the neuropathological finding of a diffuse accumulation of Rosenthal fibers within the brain and the spinal cord. The diagnosis was confirmed by detection of a mutation in exon 1 at nucleotide position 249 of glial fibrillary acidic protein cDNA, a finding previously reported in cases of infantile Alexander's disease.

show abstract

Section: Discussionmentioning

confidence: 93%

Atypical focal MRI lesions in a case of juvenile Alexander's disease

Probst

Hagel

Weisz

et al. 2002

Annals of Neurology

View full text Add to dashboard Cite

show abstract

“…e Patients 14 and 15 are identical twins. f Clinical findings have been previously published for Cases 23, 15 32, 16 and 40 17 (second patient in this article). g Present in the interhelical linker region between coils 2A and 2B.…”

Section: Clinical Featuresmentioning

confidence: 85%

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

Johnson

Salomons

et al. 2005

Annals of Neurology

234

291

View full text Add to dashboard Cite

Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread and abundant presence in astrocytes of protein aggregates called Rosenthal fibers. The disease most often occurs in infants younger than 2 years and has been labeled a leukodystrophy because of an accompanying severe myelin deficit in the frontal lobes. Later onset forms have also been recognized based on the presence of abundant Rosenthal fibers. In these cases, clinical signs and pathology can be quite different from the infantile form, raising the question whether they share the same underlying cause. Recently, we and others have found pathogenic, de novo missense mutations in the glial fibrillary acidic protein gene in most infantile patients examined and in a few later onset patients. To obtain further information about the role of glial fibrillary acidic protein mutations in Alexander disease, we analyzed 41 new patients and another 3 previously described clinically, including 18 later onset patients. Our results show that dominant missense glial fibrillary acidic protein mutations account for nearly all forms of this disorder. They also significantly expand the catalog of responsible mutations, verify the value of magnetic resonance imaging diagnosis, indicate an unexpected male predominance for the juvenile form, and provide insights into phenotype-genotype relations.

show abstract

“…Infantile spasms in AD cases are a remarkable presentation, and are rare according to many reports. Although Gingold et al (14) described briefly that his AD patient developed multifocal seizures at age 11 months and EEG demonstrated hypsarrhythmia, which was recorded at the left posterior hemisphere during an ictal episode, no further description was provided. They first described an AD case accompanied by infantile spasms, and since no further cases have been published, our case is the second, which is why we consider this case valuable.…”

Section: Discussionmentioning

confidence: 99%

A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis

et al. 2006

View full text Add to dashboard Cite

Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.

show abstract

Alexander's Disease: Unique Presentation

Cited by 30 publications

References 16 publications

Atypical focal MRI lesions in a case of juvenile Alexander's disease

Atypical focal MRI lesions in a case of juvenile Alexander's disease

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis

Contact Info

Product

Resources

About