## Abstract The aim of the present study was to investigate whether cyclooxygenase‐2 (COX‐2) expression is involved in the pathogenesis of neurodegeneration in dementia with Lewy bodies (DLB) by measuring COX‐2 mRNA and protein expression in frontal cortex and substantia nigra __pars compacta__ of
✦ LIBER ✦
Presenilin-2 gene mutation presenting as Lewy Body dementia?
✍ Scribed by Loredana Raciti; Alessandra Nicoletti; Francesco Le Pira; Virginia Andreoli; Donatella Contrafatto; Salvatore Lanzafame; Tiziana Maci; Antonio Gambardella; Aldo Quattrone; Mario Zappia
- Publisher
- Springer Milan
- Year
- 2011
- Tongue
- English
- Weight
- 132 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1590-1874
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We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperiph-era1 dysplasia and the few published cases suggest autosomal dominant inheritance with considerable