Abstract
Abnormalities of striated muscle histology in patients with neuroacanthocytosis have been previously attributed to chronic denervation. This hypothesis is based in the presence of axonal peripheral neuropathy. In this 37-year-old patient clinical, biochemical and histologic data revealed a non specific primary myopathy. Other important findings were decreased levels of 5-hydroxy-indoleacetic acid (5-HILA) and homovanillic acid (HVA) in the CSF, cerebellar and basal ganglia atrophy seen in MRI and infertility of probable gonadal origin.
Publication types
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Case Reports
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English Abstract
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Research Support, Non-U.S. Gov't
MeSH terms
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Acanthocytes*
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Adult
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Basal Ganglia / physiopathology
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Basophils / ultrastructure
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Brain Diseases / complications
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Brain Diseases / diagnosis
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Brain Diseases / physiopathology*
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Cerebellum / physiopathology
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Denervation
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Homovanillic Acid / cerebrospinal fluid
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Humans
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Hydroxyindoleacetic Acid / cerebrospinal fluid
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Magnetic Resonance Imaging
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Male
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Movement Disorders / etiology
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Movement Disorders / physiopathology
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Muscular Diseases / complications
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Muscular Diseases / diagnosis
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Muscular Diseases / physiopathology*
Substances
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Hydroxyindoleacetic Acid
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Homovanillic Acid