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PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
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 pro...
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| Опубликовано в: : | J Mov Disord |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
The Korean Movement Disorder Society
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5790629/ https://ncbi.nlm.nih.gov/pubmed/29316780 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.17066 |
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