𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

✍ Scribed by Giovanni Rizzo; Fabio Pizza; Cesa Scaglione; Caterina Tonon; Raffaele Lodi; Bruno Barbiroli; Paolo Ambrosetto; Paolo Martinelli


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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Functional status of men with the fragil
✍ Angela G. Brega; Ann Reynolds; Rachael E. Bennett; Maureen A. Leehey; Lanee S. B 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

## Abstract ## Background Fragile X‐associated tremor/ataxia syndrome (FXTAS), which occurs in some premutation carriers of the fragile X mental retardation 1 (__FMR1__) gene, is a neurodegenerative disorder characterized by action tremor, gait ataxia, and impaired executive cognitive functioning.

Expanding the phenotype of fragile X-ass
✍ Judit Horvath; Michael Morris; Armand Bottani; Isabelle Moix; Jacqueline Delavel 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

## Abstract We report an original case of fragile X‐associated tremor/ataxia syndrome in a female carrier, who had been misdiagnosed for years because of unusual features mimicking other movement or cerebrovascular disorders. She exhibited features that have not been previously described, including

Fragile X-associated tremor/ataxia syndr
✍ Leonardo P. Capelli; Márcia R. R. Gonçalves; Fernando Kok; Cláudia C. Leite; Ric 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB

## Abstract Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the __FMR1__ gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)~1

Impairment of executive cognitive functi
✍ Jim Grigsby; Angela G. Brega; Maureen A. Leehey; Glenn K. Goodrich; Sébastien Ja 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB

## Abstract The fragile X‐associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (__FMR1__) gene. In addition to progressive gait ataxia, action tremor, peripheral ne