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

• Published in: Movement disorders Vol. 18; no. 5; pp. 595 - 598
• Main Authors: Werber, Edith, Klein, Colin, Grünfeld, Jonathan, Rabey, José Martin
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 01-05-2003; Wiley
• Subjects: Adult; Atrophy - diagnostic imaging; Atrophy - pathology; Biological and medical sciences; chromosome 17; Chromosomes, Human, Pair 17 - genetics; Cognition Disorders - genetics; Cognition Disorders - physiopathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Frontal Lobe - diagnostic imaging; Frontal Lobe - physiopathology; Gene Order - genetics; Humans; Medical sciences; Neurology; P301S mutation; Parkinson Disease - diagnosis; Parkinson Disease - genetics; Parkinson Disease - physiopathology; Phenotype; Point Mutation - genetics; Reflex, Babinski - physiopathology; Temporal Lobe - diagnostic imaging; Temporal Lobe - physiopathology; Tomography, X-Ray Computed; Tropical medicine; Human; Temporal lobe; Nervous system diseases; Frontal lobe; Pathophysiology; Parkinson disease; Video recording; Cerebral disorder; Case study; Chromosome E17; Central nervous system disease; Degenerative disease; Mutation; Extrapyramidal syndrome; Dementia
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.10401

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