✦ LIBER ✦

An R5L τ mutation in a subject with a progressive supranuclear palsy phenotype

✍ Scribed by Parvoneh Poorkaj; Nancy A. Muma; Victoria Zhukareva; Elizabeth J. Cochran; Kathleen M. Shannon; Howard Hurtig; William C. Koller; Thomas D. Bird; John Q. Trojanowski; Virginia M.-Y. Lee; Gerard D. Schellenberg

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 486 KB
Volume: 52
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10340

No coin nor oath required. For personal study only.

✦ Synopsis

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. Functionally, this mutation alters the ability of tau to promote microtubule assembly. Analysis of soluble tau from different brain regions indicates that the mutation does not affect the ratio of tau isoforms synthesized. Aggregated insoluble tau from subcortical regions was predominantly four‐repeat tau with no or one amino terminal insert (0N4R and 1N4R). Insoluble tau from cortical regions also contained 1N3R tau. Thus, the ^R^5^L^ mutation causes a progressive supranuclear palsy phenotype, presumably by a gain‐of‐function mechanism.

📜 SIMILAR VOLUMES

Progressive supranuclear palsy and Parki

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

✍ Giacomina Rossi; Elisabetta Gasparoli; Claudio Pasquali; Giuseppe Di Fede; Danie 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB 👁 2 views

Unusual phenotype with progressive verte

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

✍ N. Philip; L. Colleaux; S. Sigaudy; T. Attié-Bitach; C. Missirian; A. Moncla; M. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

A missense mutation in the ZFHX1B gene a

A missense mutation in the ZFHX1B gene associated with an atypical Mowat–Wilson syndrome phenotype

✍ Wolfram Heinritz; Christiane Zweier; Ursula G. Froster; Sibylle Strenge; Annegre 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

The 1396del a mutation and a missense mu

The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer

✍ Véronique Vidal; Jacques-Olivier Bay; Françoise Champomier; Maria Grancho; Laure 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

The Werner's syndrome ( WS) is a rare recessive disease characterized by an early onset of geriatric disorders. The Werner's syndrome gene ( WRN), recently cloned, encodes for an helicase and therefore plays a role in DNA metabolism and DNA repair. Here, we report the study of a French family with t