Pathogenic, dominant, de novo missense mutations in the glial fibrillary acidic protein (GFAP) have been found in the three subtypes of infantile, juvenile and adult Alexander disease.Here we describe four members of an Italian family (32 to 66-yearsold, 2 women and 2 men) affected by adult Alexander disease, the least common and the most clinically variable form.Direct sequencing of all coding regions of the GFAP gene, neurological examination and brain MRI were performed.Two novel missense mutations were found involving two very close codons, c.[988C > G, 994G > A], leading to p.[Arg330Gly, Glu332Lys]. Clinically, two members exhibited pseudo-bulbar signs, gait ataxia and spasticity, one showed a severe cranial sensory symptomatology, and...
Background: We studied a family including two half-siblings, sharing the same mother, affected by sl...
Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy w...
Alexander disease is a rare disorder of the central nervous system of unknown etiology. Infants with...
Pathogenic, dominant, de novo missense mutations in the glial fibrillary acidic protein (GFAP) have ...
AbstractIn this report, we describe the case of a new Japanese family (32 to 64years old; 2 females ...
Alexander disease is a rare disorder of the central nervous system caused by mutations in the gene f...
Alexander disease (AD), a rare neurodegenerative disorder of the central nervous system, is characte...
Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized path...
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently bee...
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary a...
Objective To report the clinical phenotype and genetic characteristics of an Alexander's disease typ...
Background: Alexander disease (AD) is a sporadic leukodystrophy that predominantly affects infants a...
Adult-onset Alexander disease (AOAD) has been increasingly recognized since the identification of th...
BACKGROUND: We studied a family including two half-siblings, sharing the same mother, affected by sl...
Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread an...
Background: We studied a family including two half-siblings, sharing the same mother, affected by sl...
Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy w...
Alexander disease is a rare disorder of the central nervous system of unknown etiology. Infants with...
Pathogenic, dominant, de novo missense mutations in the glial fibrillary acidic protein (GFAP) have ...
AbstractIn this report, we describe the case of a new Japanese family (32 to 64years old; 2 females ...
Alexander disease is a rare disorder of the central nervous system caused by mutations in the gene f...
Alexander disease (AD), a rare neurodegenerative disorder of the central nervous system, is characte...
Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized path...
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently bee...
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary a...
Objective To report the clinical phenotype and genetic characteristics of an Alexander's disease typ...
Background: Alexander disease (AD) is a sporadic leukodystrophy that predominantly affects infants a...
Adult-onset Alexander disease (AOAD) has been increasingly recognized since the identification of th...
BACKGROUND: We studied a family including two half-siblings, sharing the same mother, affected by sl...
Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread an...
Background: We studied a family including two half-siblings, sharing the same mother, affected by sl...
Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy w...
Alexander disease is a rare disorder of the central nervous system of unknown etiology. Infants with...