[Autosomal dominant Alzheimer's disease. Study of a Moroccan family].
The authors describe in this paper a Moroccan family presenting Alzheimer's disease with early onset and rapid course (6 members, of whom 3 died at 34 and 40 years old in a severe picture of dementia). Among these 6 members, Mr M.K., 36 years old, was admitted in the University Psychiatric Department for 4 years of depressive syndrome, -memory impairment and cognitive deficit. In the literature, the cases of Alzheimer's disease begining before 60 years have been reported since 1991; the transmission of this syndrome is autosomal dominant. The genetic studies showed a multifactorial determinism. For the familial cases with early onset, the mutation occurs on the amyloïd precursor protein and on the presenilin 1 and 2. In this case, the result of the familial investigations was compatible with Alzheimer's disease, a dominant autosomic disorder, with early onset between 32 and 40 years old. The clinical course evoked a mutation of presenilin 1. The identification of such mutation in one of his sisters living in France confirmed the genetic transmission. Despite progress made in understanding the pathogenesis, the development of a curative treatment in Alzheimer's disease remains difficult. Selective inhibitors of cholinesterase can improve patients with mild to moderate Alzheimer's disease forms. In Morocco, only donepezil is available, but it is inaccessible for patients who need this treatment because of its high price. For Mr M.K., who still has a professional activity, symptomatic treatment, cognitive and psychological supports may allow him to maintain an adequate life for years. The family support is essential.
Asri
F
F
Centre Psychiatrique Universitaire Ibn Rochd, Casablanca, Maroc.
Moussaoui
D
D
Kadri
N
N
D000328:Adult; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016564:Amyloid beta-Protein Precursor / Q000031:analogs & derivatives* / Q000235:genetics; D001284:Atrophy / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000628:therapy; D015928:Cognitive Behavioral Therapy; D000077265:Donepezil; D005260:Female; D006801:Humans; D007189:Indans / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009483:Neuropsychological Tests; D010375:Pedigree; D010880:Piperidines / Q000627:therapeutic use; D017354:Point Mutation / Q000235:genetics; D053764:Presenilin-1; D053766:Presenilin-2; D011788:Quality of Life; D012720:Severity of Illness Index; D012944:Social Support
C489697:APLP1 protein, human; D016564:Amyloid beta-Protein Precursor; D002800:Cholinesterase Inhibitors; D007189:Indans; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D010880:Piperidines; D053764:Presenilin-1; D053766:Presenilin-2; D000077265:Donepezil