✦ LIBER ✦

Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year period

✍ Scribed by Jordi Clarimon; Janel Johnson; Ruth Djaldetti; Dena Hernandez; Nobutaka Hattori; Hava Sroka; Yael Barhom; Andrew Singleton

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 61 KB
Volume: 20
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20495

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR‐JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings. © 2005 Movement Disorder Society

📜 SIMILAR VOLUMES

Clinical and genetic studies on familial

Clinical and genetic studies on familial parkinsonism: The first report on a parkin gene mutation in a Taiwanese family

✍ C.-S. Lu; J.-C. Wu; C.-H. Tsai; R.-S. Chen; Y.-H. Wu Chou; N. Hattori; H. Yoshin 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 737 KB

Clinical characterization of a family wi

Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene

✍ Bleyer, Anthony J.; Woodard, Arch S.; Shihabi, Zak; Sandhu, Jaspreet; Zhu, Honpi 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 142 KB

## Background: We have recently identified a mutation in the uromodulin gene in a large family affected with hyperuricemia, gout, and renal failure. the purpose of this investigation is to provide a comprehensive characterization of the clinical findings of this syndrome in family members who had a

Clinical phenotype of autosomal dominant

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene

✍ Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB

## Abstract Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder caused by mutations in nuclear genes. Here we report the clinical and genetic features of adPEO in a Chinese family. All patients had gradual onset of ptosis, with or without ophthalmoplegia, aro

Genetic heterogeneity of the hexon gene

Genetic heterogeneity of the hexon gene of adenovirus type 3 over a 9-year period in Korea

✍ Eun Hwa Choi; Hee Sup Kim; Ki Ho Park; Hoan Jong Lee 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

Hexon sequences were analyzed in 29 epidemiologically unrelated adenovirus type 3 (Ad3) isolates from the 7 genome types to understand the molecular basis of the genome-type diversity of Ad3 associated with childhood pneumonia in Korea during the period 1991-1999. Nine nucleotide substitutions were

Reappraisal of the epidemiology of giant

Reappraisal of the epidemiology of giant cell arteritis in Olmsted County, Minnesota, over a fifty-year period

✍ Salvarani, Carlo ;Crowson, Cynthia S. ;O'Fallon, W. Michael ;Hunder, Gene G. ;Ga 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 2 views

## Objective: To investigate time trends in the incidence and survival of giant cell arteritis (gca) over a 50-year period in olmsted county, minnesota. ## Methods: Using the unified record system at the mayo clinic, we identified all incident cases of gca first diagnosed between 1950 and 1999. i

Codon 178 mutation of the human prion pr

Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue

✍ H. A. Kretzschmar; M. Neumann; D. Stavrou 📂 Article 📅 1995 🏛 Springer-Verlag 🌐 English ⚖ 400 KB