Alzheimer Disease: Ghika J

Joray S, Ghika J, von Gunten A, Büla C, Gold G, Assal F. · Service de neurologie, CHUV, Lausanne. · Rev Med Suisse. · Pubmed #15977708 No free full text.

Abstract: Alzheimer's disease is a frequent neurodegenerative disease, which affects more than one third of elderly persons over 80 years. No curative treatment is currently available for this disease, but symptomatic treatments have produced significant improvements in patients' condition. Cholinesterase inhibitors should be prescribed for early and moderate stages and memantine for more severe stages of the disease. These drugs have an impact on cognitive performances, may delay functional decline and improve behaviour disturbances. From a preventive perspective, evidence of benefit from early management of vascular risk factors is accumulating. In the near future, the improved comprehension of the underlying mechanisms of Alzheimer's disease will hopefully bring new treatments, thats will delay or modify its course.

Leys D, Erkinjuntti T, Desmond DW, Schmidt R, Englund E, Pasquier F, Parnetti L, Ghika J, Kalaria RN, Chabriat H, Scheltens P, Bogousslavsky J. · University of Lille, France. · Alzheimer Dis Assoc Disord. · Pubmed #10609680 No free full text.

Abstract: Although vascular dementia (VaD) is the second most frequent cause of dementia after Alzheimer disease (AD), the concept remains controversial in terms of delineation. The objective of this review is to investigate, from available literature, the role of cerebral infarcts in the pathogenesis of VaD and to identify areas of interest that need further evaluation and research. The incidence of new onset dementia is increased after stroke. Stroke subtypes, total volume of cerebral infarction and functional tissue loss, and location of the lesions are probably the major determinants of VaD. Any cause of stroke can lead to VaD. In some circumstances the causal relation between stroke and dementia is clear: (1) in young patients who are unlikely to have associated Alzheimer pathology; (2) when the cognitive functioning was normal before stroke, impaired immediately after, and does not worsen over time; (3) when the lesions are located in strategic areas; and (4) when a well-defined vasculopathy known to cause dementia is proven. However, several issues remain unsolved in VaD: lack of specificity of the diagnostic criteria; influence of white matter changes and associated Alzheimer pathology; influence of preexisting cognitive status; possibility of having VaD without stroke and the clinical relevance of silent infarcts to VaD; and best therapeutic strategy to be used to prevent VaD and to prevent stroke in patients with VaD. These questions form the basis for proposals for future research.

Biselx S, Büla C, Ghika J. · Département de gériatrie, Réseau Santé Valais, Sion. · Rev Med Suisse. · Pubmed #19051624 No free full text.

Abstract: The restless legs syndrome (RLS) is a frequent, often unrecognized disorder in the elderly. The diagnosis is essentially based on the clinical history. The RLS is characterized by (1) an urge to move the limbs, usually associated with abnormal sensations in the legs; (2) symptoms are worse at rest; (3) they are relieved by movements; (4) they mainly occur in the evening or at night. Specific diagnostic criteria have been developed for cognitively impaired elderly persons. The RLS is a chronic disorder with high impact on sleep and quality of life. Treatment is symptomatic and recommended drugs are dopaminergic agents, opioids, and gabapentine.

Miklossy J, Taddei K, Suva D, Verdile G, Fonte J, Fisher C, Gnjec A, Ghika J, Suard F, Mehta PD, McLean CA, Masters CL, Brooks WS, Martins RN. · Centre for Neurovirology and Cancer Biology, College of Science and Technology, Temple University, Philadelphia, PA 19122, USA. · Neurobiol Aging. · Pubmed #12885573 No free full text.

Abstract: Mutations in the gene encoding presenilin 1 (PS-1) account for 50% of early-onset familial Alzheimer's disease (EOFAD) cases. In this study, we identified two missense mutations in the coding sequence of the presenilin (PS-1) gene in two EOFAD pedigrees. AD was confirmed in one pedigree by autopsy. Mutation analysis of PCR products amplified from genomic DNA templates showed two novel PS-1 mutations resulting in Gln222His and Tyr256Ser. The two novel mutations are located within predicted transmembrane domains five (TM-5) and six (TM-6), respectively, and are associated with very early ages of onset. The Tyr256Ser is associated with one of the youngest age of AD onset, 25 years, which is consistent with a drastic change in function of the altered PS-1 protein. A morphometric analysis of the cortical degenerative changes of the Tyr256Ser case, showed severe involvement of the primary motor cortex, which correlated well with the pyramidal changes, including tetraspasticity. Immunoblot analysis showed the Tyr256Ser case had the greatest expression of Abeta(1-40) and Abeta(1-42), which was confirmed by ELISA, compared to other PS-1 mutant FAD cases and age-matched controls and, thus, contributes to the severity of the disease pathology.

Joray S, Ghika J, von Gunten A, Büla C, Gold G, Assal F. · No affiliation provided · Rev Med Suisse. · Pubmed #16503050 No free full text.

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