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Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease
Author(s) -
Richfield Eric K.,
Vonsattel JeanPaul,
MacDonald Marcy E.,
Sun ZhiQiang,
Deng YunPing P.,
Reiner Anton
Publication year - 2002
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10032
Subject(s) - phenocopy , striatum , huntington's disease , substantia nigra , pathological , degenerative disease , basal ganglia , pathology , disease , neuroscience , biology , medicine , phenotype , central nervous system , parkinson's disease , dopamine , gene , genetics
Phenocopies of Huntington's disease (HD) are individuals with a family history, clinical symptoms, and occasionally pathological evidence of HD but without an expanded CAG repeat within the HD gene. We report on an HD phenocopy with selective loss of preprotachykinin (PPT) neurons, dysfunction of surviving PPT neurons, preservation of preproenkephalin (PPE) neurons within the striatum, and greater loss of immunohistochemical staining for substance P in terminals of striatal neurons projecting to the substantia nigra, than in those projecting to the internal pallidal segment. This case demonstrates the existence of one type of striatal lesion that may produce a clinical picture similar to HD, and raises the possibility of a rare hereditary disease that mimics HD. © 2002 Movement Disorder Society.