𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Unusual variability of PRRT2 linked phenotypes within a family

✍ Scribed by Brueckner, Frieder; Kohl, Bernhard; Puest, Burkhard; Gassner, Silke; Osseforth, Judith; Lindenau, Matthias; Stodieck, Stefan; Biskup, Saskia; Lohmann, Ebba


Book ID
122324569
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
288 KB
Volume
18
Category
Article
ISSN
1090-3798

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Cerebellar ataxia, dystonia, and tremor
✍ Dr. Charles H. Adler; Lawrence Wrabetz; Mitchell F. Brin; Howard I. Hurtig πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 983 KB

## Abstract We report a non‐Jewish, Anglo‐Saxon, American family, in which one sibling has dystonia, a second has cerebellar ataxia, and a third has a combination of dystonia and ataxia. All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmo

Phenotype variability in spinocerebellar
✍ Sascha Hering; Clemens AchmΓΌller; Andrea KΓΆhler; Werner Poewe; Raine Schneider; πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 457 KB

## Abstract We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the ind