Phenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin

✍ Scribed by Edith Werber; Colin Klein; Jonathan Grünfeld; José Martin Rabey

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 248 KB
• Volume: 18
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.10401

✦ Synopsis

Abstract

A 39‐year‐old old Jewish woman of Algerian origin developed a rapidly progressive neurocognitive disorder characterized by asymmetric rigidity, spasticity with bilateral Babinski's sign, bradykinesia, altered speech that progressed to mutism, and severe bradyphrenia. She partially responded to levodopa. The family history revealed 4 affected first‐degree relatives (3 had already died). Genetic studies carried out in the proband and her living affected sister showed a P301S mutation in chromosome 17. © 2003 Movement Disorder Society