A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-021-05726-w.pdf
Reference14 articles.
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2. Larner AJ (2013) Presenilin-1 mutations in Alzheimer’s disease: an update on genotype-phenotype relationships. J Alzheimers Dis 37(4):653–659. https://doi.org/10.3233/jad-130746
3. Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappatà S, Barone P, Prokisch H, Romito L, Tiranti V (2017) Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics 18(3):175–178. https://doi.org/10.1007/s10048-017-0518-4
4. Liu J, Wang Q, Jing D, Gao R, Zhang J, Cui C, Qiao H, Liang Z, Wang C, Rosa-Neto P, Wu L, Jia J, Gauthier S (2019) Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer’s Disease with De Novo PSEN1 Mutation. J Alzheimers Dis 68(2):551–558. https://doi.org/10.3233/jad-181108
5. Houlden H, Crook R, Dolan RJ, McLaughlin J, Revesz T, Hardy J (2001) A novel presenilin mutation (M233V) causing very early onset Alzheimer’s disease with Lewy bodies. Neurosci Lett 313(1–2):93–95. https://doi.org/10.1016/s0304-3940(01)02254-6
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2. Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities;Expert Review of Molecular Diagnostics;2024-08-02
3. A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia;Journal of Movement Disorders;2024-01-31
4. Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease;International Journal of Molecular Sciences;2023-05-08
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