𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Anticipation in spinocerebellar ataxia type 2

✍ Scribed by Pulst, Stefan-M.; Nechiporuk, Alex; Starkman, Sid


Book ID
109916908
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
212 KB
Volume
5
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Anticipation and intergenerational repea
✍ Astrid Rasmussen; Irene De Biase; Marcela Fragoso-Benítez; Marco Antonio Macías- 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

## Abstract Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the __TBP__ gene. Most pathogenic alleles are interrupted and are stably transmitted from parent to offspring without anticipation. We identified three SCA17 families with expansion of uninterrupted all

Cervical dystonia in spinocerebellar ata
✍ Kateřina Zárubová; Evžen Růžička 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB

when it was present in at least 5 of 10 trials. Tremor axes were determined by the directions of maximal tremor power assessed over 360°. There were 29 cases (mean age, 68.8 Ϯ 10.6 years). Fifteen (51.7%) had a tremor severity rating of 2 or 3 (moderate or severe tremor), 12 (41.4%) had a rating of

Spinocerebellar ataxia type 4
✍ Y. Hellenbroich; H. Pawlack; U. Rüb; E. Schwinger; C. Zühlke 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 195 KB
Neuronal intranuclear inclusions in spin
✍ Shigeru Koyano; Toshiki Uchihara; Hiroto Fujigasaki; Ayako Nakamura; Saburo Yagi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 594 KB

The inherited neurodegenerative disorders such as the spinocerebellar ataxias, Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinal and bulbar muscular atrophy associated with CAG/polyglutamine repeat expansion have been reported to exhibit intranuclear inclusions (NIs) in neurons.