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Phenotypic presentation of frontotemporal dementia with Parkinsonism‐chromosome 17 type P301S in a patient of Jewish‐Algerian origin
Author(s) -
Werber Edith,
Klein Colin,
Grünfeld Jonathan,
Rabey José Martin
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10401
Subject(s) - proband , parkinsonism , spasticity , dementia , frontotemporal dementia , psychology , pediatrics , neurocognitive , medicine , psychiatry , genetics , disease , mutation , physical medicine and rehabilitation , cognition , biology , gene
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