Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.
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.
Richfield
Eric K
EK
Department of Pathology and Laboratory Medicine and Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. Eric_Richfield@URMC.Rochester.edu
Vonsattel
Jean-Paul
JP
MacDonald
Marcy E
ME
Sun
ZhiQiang
Z
Deng
Yun-Ping P
YP
Reiner
Anton
A
D000368:Aged; D002470:Cell Survival / Q000235:genetics; D003342:Corpus Striatum / Q000473:pathology*; D004745:Enkephalins / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000502:physiology; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D009474:Neurons / Q000473:pathology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011498:Protein Precursors / Q000235:genetics*; D013373:Substance P / Q000235:genetics; D015320:Tachykinins / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
D004745:Enkephalins; D011498:Protein Precursors; D015320:Tachykinins; C044206:preprotachykinin; D013373:Substance P; C033660:preproenkephalin