Genetic analysis of genes associated with Mendelian dementia
Keywords:
Mendelian dementia, Alzheimer disease, Parkinson diseaseAbstract
Background and aim: Dementia is a disease associated with cognitive and/or behavioral changes that interfere with the ability to perform daily activities. Alzheimer’s disease is the most common type of dementia. The aim of this mini-review is to summarize all the syndromes characterized by dementia and for which the associated gene is known. Methods: We searched those syndromes in PubMed and OMIM database. Results: Two forms of dementia exist: the multifactorial dementia results from the interaction of different genetic and environmental factors, the hereditary dementia associated with a single gene. Individuals with a family history of dementia and early onset of the disease are more likely to have a hereditary form of dementia. Dementias are mainly autosomal dominant, but they can also be autosomal recessive or X-linked. Conclusions: Since dementia has high clinical and genetic heterogeneity, the use in diagnostics of a large panel of genes may greatly help to speed up the determination of the molecular diagnosis and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.
References
Loy CT, Schofield PR, Turner AM, Kwok JB. Genetics of dementia. Lancet. 2014; 383: 828-40.
Wszolek Z, Konno T. Perry syndrome. GeneReviews, 2010. Available at: https://www.ncbi.nlm.nih.gov/books/NBK47027/
Bird TD. Alzheimer disease overview. GeneReviews, 1998. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1161/
Kitagaki H, Mori E, Ishii K, Yamaji S, Hirono N, Imamura T. CSF spaces in idiopathic normal pressure hydrocephalus: morphology and volumetry. AJNR Am J Neuroradiol 1998; 19: 1277-84.
Barker W, Luis CA, Kashuba A, et al. Relative frequencies of Alzheimer disease, Lewy body, vascular and frontotemporal dementia, and hippocampal sclerosis in the state of Florida brain bank Alzheimer Dis Assoc Disord 2002; 16: 203-12.
Fenoglio C, Scarpini E, Serpente M, Galimberti D. Role of genetics and epigenetics in the pathogenesis of Alzheimer's disease and frontotemporal dementia. J Alzheimers Dis 2018; 62: 913-32.
Luty AA, Kwok JB, Dobson-Stone C, et al. Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol 2010; 68: 639-49.
Janssen JC, Beck JA, Campbell TA, et al. Early onset familial Alzheimer’s disease: mutation frequency in 31 families. Neurology 2003; 60: 235-9.
Olszewska DA, Lonergan R, Fallon EM, Lynch T. Genetics of frontotemporal dementia. Curr Neurol Neurosci Rep 2016; 16: 107.
Mackenzie G, Will R. Creutzfeldt-Jakob disease: recent developments. F1000Res 2017; 6: 2053.
Nicolas G, Wallon D, Charbonnier C, et al. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet 2016; 24: 710–6.
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