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Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease

โœ Scribed by Eric K. Richfield; Jean-Paul Vonsattel; Marcy E. MacDonald; ZhiQiang Sun; Yun-Ping P. Deng; Anton Reiner

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
230 KB
Volume
17
Category
Article
ISSN
0885-3185

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โœฆ Synopsis

Abstract

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. ยฉ 2002 Movement Disorder Society.

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