An accurate, timely diagnosis of a nonreversible decline in mental function is crucial to ensure a personalized and data-driven treatment plan is provided to the patient. Early-stage support can help avoid unnecessary struggles and expenses associated with missed treatment opportunities.
GenviewDX offers our Hereditary Neurodegenerative panel, which examines 161 genes associated with an increased risk of developing neurodegenerative disorders and detects both the diagnostic and risk factor genes for Dementia, Alzheimer's, Parkinson's, and more.
Dementia is a relatively common disease in people over the age of 60 with a prevalence of 5-7%.1 Dementia consists of cognitive and behavioral symptoms that interfere with usual activities and represent a decline from previous function.2 Many forms of dementia are thought to be multifactorial and are genetically complex diseases; however, some have been shown to be due to distinct genetic causes.3
Alzheimer’s is the most common type of dementia and typically begins with a subtle failure of memory that progresses over time until it becomes incapacitating. Approximately 25% of all Alzheimer’s is familial, discovered through family history and molecular genetic testing. Less than 10% of Alzheimer's disease is early-onset and is likely an inherited disease. Three genes have been linked to early-onset Alzheimer's disease, accounting for a majority of cases: APP, PSEN1, PSEN2.4 5 3
In contrast to Alzheimer’s disease, FTD is more frequently seen in patients younger than 65 and may present as changes in behavior and personality or as language difficulties.6 Up to 40% have a family history of FTD. Autosomal dominant mode of inheritance has been identified in 10% of patients.7
The second most common neurodegenerative disease, and has prevalence in approximately 1% of people over the age of 60. It typically consists of motor features such as tremor and muscle rigidity, but can also include cognitive decline and dementia.8 Causes can be genetic and environmental, but 5-10% of patients have a monogenic form caused by mutations in a specific gene.8
1 The global prevalence of dementia: A systematic review and metaanalysis. Prince M, Bryce R, Albanese E, Wimo A, Ribeiro W, Ferri CP. 63-75.e2, s.l. : Alzheimers Dement, 2013, Vol. Jan;9(1). doi: 10.1016/j.
jalz.2012.11.007.
2 The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. McKhann GM1,
Knopman DS, Chertkow H, Hyman BT, Jack CR Jr, Kawas CH, Klunk WE, Koroshetz WJ, Manly JJ, Mayeux R, Mohs RC, Morris JC, Rossor MN, Scheltens P, Carrillo MC, Thies B, Weintraub S, Phelps CH. 263-9, s.l. : Alzheimers
Dement, 2011, Vol. May;7(3). doi: 10.1016/j.jalz.2011.03.005.
3 Genetics of dementia. Loy CT, Schofield PR, Turner A
M, Kwok JB. 828-40, s.l. : Lancet, 2014, Vol. Mar 1;383(9919). doi: 10.1016/S0140-6736(13)60630-3.
4 Alzheimer Disease Overview. Bird TD. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle : GeneReviews® [Internet]., 1998 Oct 23 [Updated 2018 Dec 20]., Vols. 1993-2020.
available from: https://www.ncbi.nlm.nih.gov/books/NBK1161/.
5 Alzheimer’s disease. Ballard C, Gauthier S, Corbett A, Brayne C, Aarsland D, Jones E. 1019-31, s.l. : Lancet, 2011, Vol. Mar 19;377(9770). doi: 10.1016/S0140-6736(10)61349-9.
6 Frontotemporal dementia. Bang J, Spina S, Miller BL. 1672-82, s.l. : Lancet, 2015, Vol. Oct 24;386(10004). doi: 10.1016/S0140-6736(15)00461-4.
7 The heritability and genetics of frontotemporal lobar degeneration. Rohrer JD1, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R,
Holton J, Revesz T, Hardy J, Mead S, Rossor MN. 1451-6., s.l. : Neurology, 2009, Vol. Nov 3;73(18). doi: 10.1212/WNL.0b013e3181bf997a.
8 The genetics of Parkinson disease. Deng H, Wang P, Jankovic J. 72-85, s.l. : Ageing Res Rev., 2018, Vol. Mar;42. doi: 10.1016/j.arr.2017.12.007.
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