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Anna Lehman 1 Article
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer
J Mov Disord. 2018;11(1):45-48.   Published online January 11, 2018
DOI: https://doi.org/10.14802/jmd.17066
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  • 11 Citations
AbstractAbstract PDF
Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive. The results were analyzed using the AnnEx “Annotated Exomes” browser (http://annex.can.ubc.ca), a web-based platform that facilitates WES variant annotation and interpretation. High-throughput sequencing can be especially informative for complex neurological disorders, and WES warrants consideration as a first-line clinical test. Data analyses facilitated by web-based bioinformatics tools have great potential for novel insight, although confirmatory, diagnostically accredited Sanger sequencing is recommended prior to reporting.

Citations

Citations to this article as recorded by  
  • A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
    Yueting Chen, Peng Liu, Fei Xie, Bo Wang, Zhiru Lin, Wei Luo
    Neurological Sciences.2022; 43(2): 1405.     CrossRef
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    Movement Disorders.2022; 37(5): 905.     CrossRef
  • Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization
    Miren Altuna, Rosa Larumbe, María Victoria Zelaya, Sira Moreno, Virginia García-Solaesa, Maite Mendioroz, María Antonia Ramos, María Elena Erro
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    Movement Disorders.2021; 36(8): 1959.     CrossRef
  • PET/MRI Delivers Multimodal Brain Signature in Alzheimer’s Disease with De Novo PSEN1 Mutation
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    Current Alzheimer Research.2021; 18(2): 178.     CrossRef
  • Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation
    Yury Seliverstov, Ilya Kanivets, Sergey Illarioshkin
    The Cerebellum.2020; 19(5): 744.     CrossRef
  • NetCore: a network propagation approach using node coreness
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    Nucleic Acids Research.2020; 48(17): e98.     CrossRef
  • 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
    Jia Liu, Qianqian Wang, Donglai Jing, Ran Gao, Jing Zhang, Chunlei Cui, Hongwen Qiao, Zhigang Liang, Chaodong Wang, Pedro Rosa-Neto, Liyong Wu, Jianping Jia, Serge Gauthier
    Journal of Alzheimer's Disease.2019; 68(2): 551.     CrossRef
  • A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
    Kaloyan R. Stoychev, Maya Stoimenova-Popova, Petranka Chumpalova, Lilia Ilieva, Mohamed Swamad, Zornitsa Kamburova-Martinova
    Frontiers in Psychiatry.2019;[Epub]     CrossRef
  • Deficiency in the transcription factor NRF2 worsens inflammatory parameters in a mouse model with combined tauopathy and amyloidopathy
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JMD : Journal of Movement Disorders