Abstract
Benign hereditary chorea (BHC) recently has been associated with mutations in TITF-1 gene, although a pathological study of an individual with BHC and a TITF-1 mutation revealed no significant gross or microscopic abnormalities using standard methods. Immunohistochemical staining of striatal tissue from a BHC-affected postmortem brain was performed using antibodies against neurotransmitters of interneurons whose tangential migration is mediated by TITF-1. There was a loss of most TITF-1-mediated striatal interneurons in the BHC specimen compared to four matched control brains.
Copyright (c) 2005 Movement Disorder Society.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Antibodies / immunology
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Cell Movement
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Chorea / genetics
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Chorea / metabolism
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Chorea / pathology*
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Chromosomes, Human, Pair 14 / genetics
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Corpus Striatum / metabolism
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Corpus Striatum / pathology*
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Fatal Outcome
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Humans
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Immunohistochemistry
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Interneurons / immunology
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Interneurons / metabolism
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Interneurons / pathology
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Middle Aged
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Neurons / metabolism
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Neurons / pathology*
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Neurotransmitter Agents / immunology
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism
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Point Mutation / genetics
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Thyroid Nuclear Factor 1
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Transcription Factors / genetics
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Transcription Factors / metabolism
Substances
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Antibodies
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Neurotransmitter Agents
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Nuclear Proteins
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Thyroid Nuclear Factor 1
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Transcription Factors