PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
Journal of Movement Disorders
;
: 45-48, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-765810
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ataxia
/
Convulsões
/
Tremor
/
Estatística como Assunto
/
Biologia Computacional
/
Transtornos Parkinsonianos
/
Distonia
/
Presenilina-1
/
Doença de Alzheimer
/
Exoma
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Movement Disorders
Ano de publicação:
2018
Tipo de documento:
Artigo
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