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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1987-9-30
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pubmed:abstractText |
We report the clinical and postmortem neuropathological findings in a case of long-standing giant axonal neuropathy. The patient, a caucasian male with kinky hair, was first seen at 4 years of age because of increasing unsteadiness of gait. Clinical examination showed nystagmus, cerebellar ataxia, distal sensory loss, and weakness. A sural nerve biopsy at 8 years of age revealed giant axonal neuropathy. The patient became increasingly demented and was incapacitated by weakness and ataxia; he died at 18 years of age. Histological examination of the brain and spinal cord showed numerous Rosenthal fibers, a distal axonopathy that most severely affected the corticospinal tracts, middle cerebellar peduncles, and posterior columns, and olivocerebellar degeneration.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0364-5134
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
79-84
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:3631924-Adolescent,
pubmed-meshheading:3631924-Astrocytes,
pubmed-meshheading:3631924-Axons,
pubmed-meshheading:3631924-Brain,
pubmed-meshheading:3631924-Glial Fibrillary Acidic Protein,
pubmed-meshheading:3631924-Humans,
pubmed-meshheading:3631924-Male,
pubmed-meshheading:3631924-Nervous System Diseases
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pubmed:year |
1987
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pubmed:articleTitle |
Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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