alexander disease/seizures

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Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease.

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Alexander disease (AxD) is the only known human pathology caused by mutations in an astrocyte-specific gene, glial fibrillary acidic protein (GFAP). These mutations result in abnormal GFAP accumulations that promote seizures, motor delays and, ultimately, death. The exact contribution of increased,

A young child with seizures and mild developmental delay. Diagnosis: Alexander disease.

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Early cerebral images of Alexander disease: report of one case.

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Alexander disease is a neurodegenerative disorder characterized pathologically by demyelination and accumulation of eosinophilic hyaline bodies (Rosenthal fibers) within astrocytes. Demonstration of Rosenthal fibers on histological examination is considered a prerequisite for a definitive diagnosis.

Clinical and genetic study in Chinese patients with Alexander disease.

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Alexander disease is a rare progressive leukoencephalopathy inherited in an autosomal dominant manner. The infantile form is the most common, with onset before 2 years of age. The typical clinical signs include psychomotor retardation and regression, seizures, and megalencephaly. Juvenile and adult

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

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Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 days after birth. Electroencephalogram showed

A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.

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We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. Brain magnetic resonance imaging (MRI) showed abnormal findings with white matter

Scoliosis in a patient with Alexander disease.

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Alexander disease is a rare, degenerative disorder of the central nervous system. It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly. Here we describe a 13-year-old boy with Alexander disease and severe scoliosis. The patient

[Clinical and genetic study of twelve Chinese patients with Alexander disease].

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OBJECTIVE To delineate the phenotype and genotype characteristics in 12 Chinese children with Alexander disease (AD), which is helpful for the molecular diagnosis and genetic counseling in China. METHODS Clinical diagnosis of AD was based on MRI criteria proposed by van der Knaarp in 2001. Included

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

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To delineate the phenotype and genotype in Chinese children with type I Alexander disease (AxD) and the parental origin of de novo glial fibrillary acidic protein (GFAP) mutations. Twenty-two children with clinically diagnosed type I AxD were followed up for 1.66-6.62 years. Allele-specific PCR was

Alexander disease: early presence of cerebral MRI criteria.

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Alexander disease is a rare neurodegenerative disorder. Its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life. Since the publication of cerebral radiological criteria in 2001, the disease has often

A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.

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Alexander disease is a leukoencephalopathy that usually presents during infancy with developmental delay, macrocephaly and seizures. Several sequencing analyses have identified mutations in the gene encoding glial fibrillary acidic protein (GFAP) of patients with Alexander disease. We described a

Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.

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Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, seizures, spasticity, and psychomotor deterioration. We describe a boy who was diagnosed as affected by anorexia

Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.

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Glial fibrillary acidic protein (GFAP) mutation has been reported in Alexander disease. We report a 31-year-old woman suffering from Alexander disease with a V87L mutation in GFAP. She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic

[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].

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A 41-year-old woman presented with short-stepped gait from 20 years old and with repeated loss of consciousness from 21 years old. She had a deep cerebral white matter lesion on brain MRI at 34 years of age, but she did not reach a definitive diagnosis. At the age of 41, the gait disorder rapidly

[Follow-up and genetic study of 43 Chinese children with type Ⅰ Alexander disease].

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Objective: To identify the clinical and genetic characteristics in 43 Chinese children diagnosed with type Ⅰ Alexander disease (AxD). Method: Forty-three type Ⅰ AxD cases identified by glial fibrillary acidic protein (GFAP) gene mutations in Peking University First Hospital from 2005 to 2016 were

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alexander disease/seizures

Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease.

A young child with seizures and mild developmental delay. Diagnosis: Alexander disease.

Early cerebral images of Alexander disease: report of one case.

Clinical and genetic study in Chinese patients with Alexander disease.

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.

Scoliosis in a patient with Alexander disease.

[Clinical and genetic study of twelve Chinese patients with Alexander disease].

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Alexander disease: early presence of cerebral MRI criteria.

A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.

Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.

Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.

[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].

[Follow-up and genetic study of 43 Chinese children with type Ⅰ Alexander disease].

Cea mai completă bază de date cu plante medicinale susținută de știință

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.