alexander disease/asthenia

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[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene].

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We report a 58-year-old woman with adult onset Alexander disease. At the age of 54 she noticed numbness in bilateral legs and at 57 she developed left sided spastic gait. Her walking difficulty was gradually worsened and followed by the development of weakness in left arm, dysarthria and dysphagia.

[A case of Alexander disease with dropped head syndrome].

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A 51-year-old woman presented with progressive weakness of the neck extensor muscles and gait disturbances since the past 6 years. In addition, she presented with symptoms such as dysarthria, dysphagia, bladder, and rectal disturbances. Bilateral plantar reflex was positive. Her gait was

A rare cause of neuromuscular scoliosis: Alexander disease.

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Alexander disease belongs to a group of progressive neurological disorders in which the destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers. Spinal deformity rarely accompanies this disease. The aim of this report is to

Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.

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BACKGROUND Alexander disease (AxD) is an astrogliopathy, resulting from a mutation in the glial fibrillary astrocytic protein gene. Different clinical subtypes have been described, including infantile, juvenile, and adult onset, based upon the age at which symptoms begin. Patients with the

Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation.

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Alexander disease (AxD) is pathologically characterized by the presence of Rosenthal fibers (RF), which are made up of GFAP, αB-crystallin and heat shock protein 27, in the cytoplasm of perivascular and subpial astrocyte endfeet. Since GFAP mutation has been confirmed in reported cases of AxD,

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

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Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial fibrillary acidic protein (GFAP) mutations have been reported in various forms of AxD since 2001. However, a definitive diagnosis remains difficult

Choking on food: a rare case of alexander leukodystrophy and choking.

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Every body has to eat to survive but it becomes a matter of great concern, when the life provider food becomes an asphyxiating agent. In this case, a 60-year-old woman choked herself while swallowing biscuits. On autopsy examination, biscuits were found lodged in larygo-pharynx. Brain showed marked

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