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Alexander disease (OMIM #37780) is a neurological genetic disorder characterized by progressive white-matter degeneration. Three different forms can be distinguished by the age of onset: infantle, juvenile and adult form with progressive less severe phenotype form infantile to adult forms. Infants with Alexander disease develop leukeoencephalopathy with marcrocephaly, seizures and psychomotor retardation leading to death usually withing the first decade. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, as well as a more slowly progressive course. MR imaging criteria were defined by van der Knaap et al. (ANJR, 2001). Typical signs are extensive cerebral white matter changes with frontal predominance, a periventricular rim, abnormalities of basal ganglia and thalami, brain stem abnormalities, and contrast enhancement of particular gray and white matter structures.
The pathological hallmark of Alexander disease is the formation of Rosenthal fibres that form cytoplasmic aggregates within astrocytes. In most patients with clinincal signs of Alexander disease, mutations within the coding region of the glial fibrillary acidic protein gene (GFAP) can be found. In nearly all cases, these mutations are due to dominant de novo mutations of the GFAP gene in heterozygous state. Rarely, autosomal-dominant inheritance mode was observed in families with late-onset clinical manifestation of Alexander disease.
Methods:
Sequencing of the GFAP coding region.
Dr. W. M. Gerding
Humangenetik
Gebäude MA 5
Ruhr-Universität
Universitätsstr. 150
44801 Bochum
GermanyTel.: +49 234 32 23831
Fax: +49 234 32 14196
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