U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Genetic neurodegenerative disease with dementia

MedGen UID:
1842886
•Concept ID:
C5680753
•
Disease or Syndrome
Orphanet: ORPHA276058

Professional guidelines

PubMed

Huntington's disease: diagnosis and management.
Stoker TB, Mason SL, Greenland JC, Holden ST, Santini H, Barker RA
Pract Neurol 2022 Feb;22(1):32-41. Epub 2021 Aug 19 doi: 10.1136/practneurol-2021-003074. PMID: 34413240
Comprehensive Review on Alzheimer's Disease: Causes and Treatment.
Breijyeh Z, Karaman R
Molecules 2020 Dec 8;25(24) doi: 10.3390/molecules25245789. PMID: 33302541Free PMC Article
Recent Advancements in Pathogenesis, Diagnostics and Treatment of Alzheimer's Disease.
Khan S, Barve KH, Kumar MS
Curr Neuropharmacol 2020;18(11):1106-1125. doi: 10.2174/1570159X18666200528142429. PMID: 32484110Free PMC Article

Recent clinical studies

Etiology

The promise of music therapy for Alzheimer's disease: A review.
Matziorinis AM, Koelsch S
Ann N Y Acad Sci 2022 Oct;1516(1):11-17. Epub 2022 Jul 18 doi: 10.1111/nyas.14864. PMID: 35851957Free PMC Article
Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
Boeve BF, Boxer AL, Kumfor F, Pijnenburg Y, Rohrer JD
Lancet Neurol 2022 Mar;21(3):258-272. doi: 10.1016/S1474-4422(21)00341-0. PMID: 35182511
Comprehensive Review on Alzheimer's Disease: Causes and Treatment.
Breijyeh Z, Karaman R
Molecules 2020 Dec 8;25(24) doi: 10.3390/molecules25245789. PMID: 33302541Free PMC Article
The genetic architecture of Parkinson's disease.
Blauwendraat C, Nalls MA, Singleton AB
Lancet Neurol 2020 Feb;19(2):170-178. Epub 2019 Sep 11 doi: 10.1016/S1474-4422(19)30287-X. PMID: 31521533Free PMC Article
Frontotemporal dementia.
Bang J, Spina S, Miller BL
Lancet 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4. PMID: 26595641Free PMC Article

Diagnosis

Huntington's disease: diagnosis and management.
Stoker TB, Mason SL, Greenland JC, Holden ST, Santini H, Barker RA
Pract Neurol 2022 Feb;22(1):32-41. Epub 2021 Aug 19 doi: 10.1136/practneurol-2021-003074. PMID: 34413240
Alzheimer disease.
Knopman DS, Amieva H, Petersen RC, Chételat G, Holtzman DM, Hyman BT, Nixon RA, Jones DT
Nat Rev Dis Primers 2021 May 13;7(1):33. doi: 10.1038/s41572-021-00269-y. PMID: 33986301Free PMC Article
Comprehensive Review on Alzheimer's Disease: Causes and Treatment.
Breijyeh Z, Karaman R
Molecules 2020 Dec 8;25(24) doi: 10.3390/molecules25245789. PMID: 33302541Free PMC Article
The genetic architecture of Parkinson's disease.
Blauwendraat C, Nalls MA, Singleton AB
Lancet Neurol 2020 Feb;19(2):170-178. Epub 2019 Sep 11 doi: 10.1016/S1474-4422(19)30287-X. PMID: 31521533Free PMC Article
Frontotemporal dementia.
Bang J, Spina S, Miller BL
Lancet 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4. PMID: 26595641Free PMC Article

Therapy

Gut microbiota, circulating cytokines and dementia: a Mendelian randomization study.
Ji D, Chen WZ, Zhang L, Zhang ZH, Chen LJ
J Neuroinflammation 2024 Jan 4;21(1):2. doi: 10.1186/s12974-023-02999-0. PMID: 38178103Free PMC Article
Role of neuroinflammation in neurodegeneration development.
Zhang W, Xiao D, Mao Q, Xia H
Signal Transduct Target Ther 2023 Jul 12;8(1):267. doi: 10.1038/s41392-023-01486-5. PMID: 37433768Free PMC Article
Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities.
Tabrizi SJ, Estevez-Fraga C, van Roon-Mom WMC, Flower MD, Scahill RI, Wild EJ, Muñoz-Sanjuan I, Sampaio C, Rosser AE, Leavitt BR
Lancet Neurol 2022 Jul;21(7):645-658. doi: 10.1016/S1474-4422(22)00121-1. PMID: 35716694Free PMC Article
Huntington's disease: diagnosis and management.
Stoker TB, Mason SL, Greenland JC, Holden ST, Santini H, Barker RA
Pract Neurol 2022 Feb;22(1):32-41. Epub 2021 Aug 19 doi: 10.1136/practneurol-2021-003074. PMID: 34413240
New Avenues for the Treatment of Huntington's Disease.
Kim A, Lalonde K, Truesdell A, Gomes Welter P, Brocardo PS, Rosenstock TR, Gil-Mohapel J
Int J Mol Sci 2021 Aug 4;22(16) doi: 10.3390/ijms22168363. PMID: 34445070Free PMC Article

Prognosis

Plasma proteomic profiles predict future dementia in healthy adults.
Guo Y, You J, Zhang Y, Liu WS, Huang YY, Zhang YR, Zhang W, Dong Q, Feng JF, Cheng W, Yu JT
Nat Aging 2024 Feb;4(2):247-260. Epub 2024 Feb 12 doi: 10.1038/s43587-023-00565-0. PMID: 38347190
Human prion diseases: An overview.
Piñar-Morales R, Barrero-Hernández F, Aliaga-Martínez L
Med Clin (Barc) 2023 Jun 23;160(12):554-560. Epub 2023 Apr 21 doi: 10.1016/j.medcli.2023.03.001. PMID: 37088611
The Epidemiology of Alzheimer's Disease Modifiable Risk Factors and Prevention.
Zhang XX, Tian Y, Wang ZT, Ma YH, Tan L, Yu JT
J Prev Alzheimers Dis 2021;8(3):313-321. doi: 10.14283/jpad.2021.15. PMID: 34101789
Alzheimer disease.
Knopman DS, Amieva H, Petersen RC, Chételat G, Holtzman DM, Hyman BT, Nixon RA, Jones DT
Nat Rev Dis Primers 2021 May 13;7(1):33. doi: 10.1038/s41572-021-00269-y. PMID: 33986301Free PMC Article
Comprehensive Review on Alzheimer's Disease: Causes and Treatment.
Breijyeh Z, Karaman R
Molecules 2020 Dec 8;25(24) doi: 10.3390/molecules25245789. PMID: 33302541Free PMC Article

Clinical prediction guides

The promise of music therapy for Alzheimer's disease: A review.
Matziorinis AM, Koelsch S
Ann N Y Acad Sci 2022 Oct;1516(1):11-17. Epub 2022 Jul 18 doi: 10.1111/nyas.14864. PMID: 35851957Free PMC Article
Biomarkers for neurodegenerative diseases.
Hansson O
Nat Med 2021 Jun;27(6):954-963. Epub 2021 Jun 3 doi: 10.1038/s41591-021-01382-x. PMID: 34083813
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M, Pivac N
Adv Exp Med Biol 2019;1192:27-52. doi: 10.1007/978-981-32-9721-0_3. PMID: 31705489
Frontotemporal Dementia: A Clinical Review.
Sivasathiaseelan H, Marshall CR, Agustus JL, Benhamou E, Bond RL, van Leeuwen JEP, Hardy CJD, Rohrer JD, Warren JD
Semin Neurol 2019 Apr;39(2):251-263. Epub 2019 Mar 29 doi: 10.1055/s-0039-1683379. PMID: 30925617
Inflammation in ALS/FTD pathogenesis.
McCauley ME, Baloh RH
Acta Neuropathol 2019 May;137(5):715-730. Epub 2018 Nov 21 doi: 10.1007/s00401-018-1933-9. PMID: 30465257Free PMC Article

Recent systematic reviews

Artificial intelligence for diagnostic and prognostic neuroimaging in dementia: A systematic review.
Borchert RJ, Azevedo T, Badhwar A, Bernal J, Betts M, Bruffaerts R, Burkhart MC, Dewachter I, Gellersen HM, Low A, Lourida I, Machado L, Madan CR, Malpetti M, Mejia J, Michopoulou S, Muñoz-Neira C, Pepys J, Peres M, Phillips V, Ramanan S, Tamburin S, Tantiangco HM, Thakur L, Tomassini A, Vipin A, Tang E, Newby D; Deep Dementia Phenotyping (DEMON) Network, Ranson JM, Llewellyn DJ, Veldsman M, Rittman T
Alzheimers Dement 2023 Dec;19(12):5885-5904. Epub 2023 Aug 10 doi: 10.1002/alz.13412. PMID: 37563912
The Amyloid-β Pathway in Alzheimer's Disease.
Hampel H, Hardy J, Blennow K, Chen C, Perry G, Kim SH, Villemagne VL, Aisen P, Vendruscolo M, Iwatsubo T, Masters CL, Cho M, Lannfelt L, Cummings JL, Vergallo A
Mol Psychiatry 2021 Oct;26(10):5481-5503. Epub 2021 Aug 30 doi: 10.1038/s41380-021-01249-0. PMID: 34456336Free PMC Article
Neurologic complications of Down syndrome: a systematic review.
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Meta-analysis of modifiable risk factors for Alzheimer's disease.
Xu W, Tan L, Wang HF, Jiang T, Tan MS, Tan L, Zhao QF, Li JQ, Wang J, Yu JT
J Neurol Neurosurg Psychiatry 2015 Dec;86(12):1299-306. Epub 2015 Aug 20 doi: 10.1136/jnnp-2015-310548. PMID: 26294005
The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis.
Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves T, Jette N
Mov Disord 2012 Aug;27(9):1083-91. Epub 2012 Jun 12 doi: 10.1002/mds.25075. PMID: 22692795

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...