PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
Journal of Movement Disorders
; : 45-48, 2018.
Article
in En
| WPRIM
| ID: wpr-765810
Responsible library:
WPRO
ABSTRACT
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Ataxia
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Seizures
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Tremor
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Statistics as Topic
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Computational Biology
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Parkinsonian Disorders
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Dystonia
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Presenilin-1
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Alzheimer Disease
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Exome
Limits:
Humans
Language:
En
Journal:
Journal of Movement Disorders
Year:
2018
Type:
Article