A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease
نویسندگان
چکیده
منابع مشابه
A Novel GFAP Mutation in Late-Onset Alexander Disease Showing Diffusion Restriction
Dear Editor, A 16-year-old woman who had a history of febrile seizure at the age of 3 years presented with unsteady gait and urinary difficulties with a 5-year history, and with progressive learning difficulty over the previous year. A neurological examination revealed gaze-evoked nystagmus, cerebellar ataxia, and pyramidal signs, but no bulbar signs were present. The Wechsler Adult Intelligenc...
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Alexander disease is a fatal neurological illness characterized by white-matter degeneration and the formation of astrocytic cytoplasmic inclusions called Rosenthal fibers, which contain the intermediate filament glial fibrillary acidic protein (GFAP), the small heat-shock proteins HSP27 and alphaB-crystallin, and ubiquitin. Many Alexander-disease patients are heterozygous for one of a set of p...
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Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کاملAn infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a 6-year-old patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP, previously only described i...
متن کاملPsychiatric onset Alexander disease: an important challenge in neuropsychiatric diagnosis
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2019
ISSN: 1664-2295
DOI: 10.3389/fneur.2019.01124