𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Progressive supranuclear palsy: Phenotypic sex differences in a clinical cohort

✍ Scribed by Yasuhiko Baba; John D. Putzke; Nathaniel R. Whaley; Zbigniew K. Wszolek; Ryan J. Uitti

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
76 KB
Volume
21
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

We examined sex-based differences in phenotypic expression among a consecutive clinical series of 121 individuals diagnosed with probable progressive supranuclear palsy (PSP). For both men (44%) and women (56%), the age at symptomatic onset (66.2 and 68.5 years, respectively) and disease duration (4.6 and 4.3 years, respectively) were similar. The overwhelming majority of sex-based comparisons showed no significant difference on a variety of demographic, historical, and clinical characteristics, as well as measures of disease progression. The only differences observed were that men had significantly worse tremor as measured by the Unified Parkinson's Disease Rating Scale tremor subscore (0.9 for men and 0.3 for women, P<0.01) and men had a significantly higher mean body mass index (BMI; 28.2 for men and 25.1 for women, P=0.01), although these differences were not significant after Bonferroni correction. In general, the disease phenotype was similar between men and women, suggesting that sex may have little or no influence on the development, expression, or progression of the PSP phenotype.

πŸ“œ SIMILAR VOLUMES

An R5L Ο„ mutation in a subject with a pr
An R5L Ο„ mutation in a subject with a progressive supranuclear palsy phenotype
✍ Parvoneh Poorkaj; Nancy A. Muma; Victoria Zhukareva; Elizabeth J. Cochran; Kathl πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 486 KB πŸ‘ 1 views

## Abstract __MAPT__, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. A point mutation (^R^5^L^) was identified in a single progressive supranuclear palsy subject that was not in the other progressive supranuclear palsy subjects or in 96 controls. Fu

Muscle imaging analogies in a cohort of
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
✍ Nicola Carboni; Marco Mura; Giovanni Marrosu; Eleonora Cocco; Stefano Marini; El πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 257 KB

## Abstract Laminopathies are a heterogeneous group of __LMNA__‐gene‐mutation–related clinical disorders associated with alterations of cardiac and skeletal muscle and peripheral nerves, metabolic defects, and premature aging. Leg muscle imaging investigations were performed in a cohort of patients