OBJECTIVE: We describe atypical motor and cognitive features in a case of familial Alzheimer disease (FAD) due to presenilin-1 (PS-1) mutation. BACKGROUND: Extrapyramidal signs (EPS) typically are a late-presenting feature of sporadic Alzheimer disease (AD), but relatively little data are available regarding EPS in FAD. METHOD: A 59-year-old, right-handed man of Caribbean-Hispanic descent underwent brain imaging studies, laboratory tests for AD, and serial neurologic and neuropsychologic evaluations. RESULTS: The patient presented with recent-onset delusional ideation associated with cognitive decline. Prominent EPS developed soon after initiation of an atypical neuroleptic agent. Neuropsychologic evaluation revealed global cognitive deficits; he was found to be a carrier of a PS-1 point mutation at position G206A. EPS resolved completely after discontinuing the neuroleptic agent and coincided with improved motor speed, set initiation, and verbal fluency. CONCLUSIONS: Severe neuroleptic sensitivity and associated deficits of cognitive speed occurred in response to a dopaminergic antagonist agent; both responded readily to withdrawal of the offending agent. Patients with PS-1 AD may be at substantially increased risk of neuroleptic-induced EPS. That feature underscores the heterogeneity of the FAD clinical phenotype.
OBJECTIVE: We describe atypical motor and cognitive features in a case of familial Alzheimer disease (FAD) due to presenilin-1 (PS-1) mutation. BACKGROUND: Extrapyramidal signs (EPS) typically are a late-presenting feature of sporadic Alzheimer disease (AD), but relatively little data are available regarding EPS in FAD. METHOD: A 59-year-old, right-handed man of Caribbean-Hispanic descent underwent brain imaging studies, laboratory tests for AD, and serial neurologic and neuropsychologic evaluations. RESULTS: The patient presented with recent-onset delusional ideation associated with cognitive decline. Prominent EPS developed soon after initiation of an atypical neuroleptic agent. Neuropsychologic evaluation revealed global cognitive deficits; he was found to be a carrier of aPS-1 point mutation at position G206A. EPS resolved completely after discontinuing the neuroleptic agent and coincided with improved motor speed, set initiation, and verbal fluency. CONCLUSIONS: Severe neuroleptic sensitivity and associated deficits of cognitive speed occurred in response to adopaminergic antagonist agent; both responded readily to withdrawal of the offending agent. Patients with PS-1 AD may be at substantially increased risk of neuroleptic-induced EPS. That feature underscores the heterogeneity of the FAD clinical phenotype.
Authors: M A Piggott; E F Marshall; N Thomas; S Lloyd; J A Court; E Jaros; D Burn; M Johnson; R H Perry; I G McKeith; C Ballard; E K Perry Journal: Brain Date: 1999-08 Impact factor: 13.501
Authors: S Potvin; T Pampoulova; A Mancini-Marië; O Lipp; R-H Bouchard; E Stip Journal: J Neurol Neurosurg Psychiatry Date: 2006-06 Impact factor: 10.154
Authors: A R Merdes; L A Hansen; D V Jeste; D Galasko; C R Hofstetter; G J Ho; L J Thal; J Corey-Bloom Journal: Neurology Date: 2003-05-27 Impact factor: 9.910
Authors: Gregory A Rippon; Richard Crook; Matthew Baker; Elizabeth Halvorsen; Steven Chin; Michael Hutton; Henry Houlden; John Hardy; Timothy Lynch Journal: Arch Neurol Date: 2003-06
Authors: Kristina F Zdanys; Timothy G Kleiman; Martha G MacAvoy; Benjamin T Black; Tracy E Rightmer; Monique Grey; Katherine S Garman; Rajesh R Tampi; Joel Gelernter; Christopher H van Dyck Journal: Neuropsychopharmacology Date: 2006-07-12 Impact factor: 7.853
Authors: Steven E Arnold; Irving E Vega; Jason H Karlawish; David A Wolk; Jessica Nunez; Mirna Negron; Sharon X Xie; Li-San Wang; Jacob G Dubroff; Elisabeth McCarty-Wood; John Q Trojanowski; Vivianna Van Deerlin Journal: J Alzheimers Dis Date: 2013 Impact factor: 4.472