giant axonal neuropathy/seizures

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6 matokeo

Giant axonal neuropathy. A review.

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Ingia / Ingia

First reported in 1972 by Berg & colleagues, giant axonal neuropathy is a generalized disorder of cytoplasmic intermediate filaments affecting the nervous system particularly. The condition was originally thought to be a disorder of the peripheral nervous system, but clinical and pathological

Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria).

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Ingia / Ingia

A chronic progressive neurological condition in an Alexandrine parrot (Psittacula eupatria) was manifest as intention tremors, incoordination, and seizure activity. Histology revealed large eosinophilic bodies throughout the central nervous system, and electron microscopy demonstrated that these

Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.

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Ingia / Ingia

Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes,

Giant axonal neuropathy with predominant central nervous system manifestations.

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Ingia / Ingia

The authors describe a 25-year-old woman with giant axonal neuropathy (GAN) and severe CNS involvement. She had been admitted to hospital with generalized seizures, and had gait disturbances followed by progressive mental deterioration since childhood. Neurological examination revealed mental

Role of optic microscopy for early diagnosis of Menkes disease.

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Ingia / Ingia

We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

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Ingia / Ingia

BACKGROUND CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an

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