1/6. A novel mutation in glial fibrillary acidic protein gene in a patient with alexander disease.alexander disease is a rare, progressive, leukoencephalopathy whose hallmark is the widespread accumulation of Rosenthal fibers. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death before adulthood. Definitive diagnosis of alexander disease has required biopsy or autopsy to demonstrate the presence of Rosenthal fibers. However, missense mutations in the coding region of the glial fibrillary acidic protein (GFAP) gene have recently been associated with a high percentage of pathologically proven cases. Here we report that a 10-year-old Japanese patient who showed clinical signs of alexander disease is heterozygous for a C to T transition in which predicts a novel A244V amino acid substitution in the conserved 2A alpha-helix domain of GFAP. The nucleotide change was not found in 65 normal individuals (130 alleles). These results provide further support for a causative role for GFAP mutations in alexander disease, and suggest dna sequencing as an alternative diagnostic to biopsy.- - - - - - - - - - ranking = 1keywords = leukoencephalopathy (Clic here for more details about this article) |
2/6. Megalencephalic leukoencephalopathy with subcortical cysts.Megalencephalic leukocncephalopathy is rare disorder seen in india in patient belonging to Agarwal community. Many of the patients may have a mild clinical course with gradual worsening of neurological disability. A case is being reported who was followed for 17 years and paradoxically showed radiological and clinical improvement.- - - - - - - - - - ranking = 4keywords = leukoencephalopathy (Clic here for more details about this article) |
3/6. Megalencephalic leukoencephalopathy with subcortical cysts.Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.- - - - - - - - - - ranking = 6keywords = leukoencephalopathy (Clic here for more details about this article) |
4/6. Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical courses typical for megalencephalic leukoencephalopathy with subcortical cysts, in whom a pair of novel mutations in the MLC1 gene was identified. We review the current knowledge of this disorder in relation to the patients reported.- - - - - - - - - - ranking = 6keywords = leukoencephalopathy (Clic here for more details about this article) |
5/6. Dominant form of vanishing white matter-like leukoencephalopathy.Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B have been identified. We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes.- - - - - - - - - - ranking = 4keywords = leukoencephalopathy (Clic here for more details about this article) |
6/6. Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures.Two siblings with a similar white-matter disease but different clinical symptoms are described. The first sibling suffers from nonprogressive spastic hemiparesis secondary to a congenital periventricular porencephalic cyst. Her brother has focal epilepsy. On magnetic resonance imaging, both patients show diffuse white-matter involvement predominantly of the posterior periventricular area. We suggest that this is a familial white-matter disorder with minimal symptoms and no progression in early childhood.- - - - - - - - - - ranking = 4keywords = leukoencephalopathy (Clic here for more details about this article) |