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PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
Appel-Cresswell, Silke; Guella, Ilaria; Lehman, Anna; Foti, Dean; Farrer, Matthew J.
Afiliação
  • Appel-Cresswell S; Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC, Canada.
  • Guella I; Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Lehman A; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada.
  • Foti D; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Farrer MJ; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
J Mov Disord ; 11(1): 45-48, 2018 Jan.
Article em En | MEDLINE | ID: mdl-29316780
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2018 Tipo de documento: Article