𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia

✍ Scribed by Dr. Susan B. Bressman; Dr. Ann L. Hunt; Gary A. Heiman; Mitchell F. Brin; Robert E. Burke; Stanley Fahn; Joel M. Trugman; Deborah de Leon; Patricia L. Kramer; Kirk C. Wilhelmsen; Torbjoern G. Nygaard

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
612 KB
Volume
9
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The DYT1 gene on chromosome 9q34 underlies idiopathic torsion dystonia (ITD) in Jewish and non‐Jewish families with childhood and adolescent‐onset dystonia that usually starts in a limb, spreads to other limbs, and uncommonly involves cranial muscles. We examined 39 members of a Mennonite family of German ancestry in which seven were affected with ITD. Age at onset was 14.7 years (range 5–34 years) and symptoms began in a limb in four. The remaining three had onset in the neck, face, and larynx. Dystonia progressed to involve at least one arm and one leg in all seven and there was cranial involvement in six. Five of these six had moderate or severe speech impairment. Linkage analysis with 9q34 markers excluded the region containing the DYT1 locus in this family. This study suggests that a gene other than DYT1 underlies some cases of early limb‐onset ITD. The clinical features of prominent cranial involvement and impaired speech distinguish this “non‐DYT1” early‐onset ITD family from the typical DYT1 phenotype.

📜 SIMILAR VOLUMES

Non-DYT1 early-onset primary torsion dys
Non-DYT1 early-onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature
✍ Alfonso Fasano; Nardo Nardocci; Antonio Emanuele Elia; Giovanna Zorzi; Anna Rita 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB

## Abstract To investigate the clinical features of early‐onset primary torsion dystonia (EO‐PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and di

A common 3-bp deletion in the DYT1 gene
A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia
✍ Petr A. Slominsky; Elena D. Markova; Marya I. Shadrina; Sergey N. Illarioshkin; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB

Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al, 1997) encodes an ATP-binding protein torsin A. A uni