Phenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin.
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.
Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel.
Edith
E
Werber
Colin
C
Klein
Jonathan
J
Grünfeld
José Martin
JM
Rabey
D000328:Adult; D001284:Atrophy / Q000000981:diagnostic imaging / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000503:physiopathology*; D023061:Gene Order / Q000235:genetics*; D006801:Humans; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D001405:Reflex, Babinski / Q000503:physiopathology; D013702:Temporal Lobe / Q000000981:diagnostic imaging / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed