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9 a.m. - 8 p.m.
Phone: (843) 805-6930
West Ashley Library
9 a.m. - 7 p.m.
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Folly Beach Library
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Phone: (843) 588-2001
John L. Dart Library
9 a.m. - 7 p.m.
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St. Paul's/Hollywood Library
9 a.m. - 8 p.m.
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Wando Mount Pleasant Library
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Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1.
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- Author(s): Taminato, Tomoya1 (AUTHOR); Araki, Manabu1 (AUTHOR); Sato, Noriko2 (AUTHOR); Ishiura, Hiroyuki3 (AUTHOR); Mitsui, Jun3 (AUTHOR); Yoshimura, Jun4 (AUTHOR); Doi, Koichiro4 (AUTHOR); Morishita, Shinichi4 (AUTHOR); Tsuji, Shoji3 (AUTHOR); Takahashi, Yuji1 (AUTHOR)
- Source:
Neurology & Clinical Neuroscience. Sep2019, Vol. 7 Issue 5, p294-296. 3p.- Subject Terms:
- Source:
- Additional Information
- Abstract: Progressive myoclonic epilepsy contains wide variety of diseases in which differential diagnosis is challenging. Here, we report a 36 year‐old female patient presenting with sporadic myoclonic epilepsy and cognitive decline. Cerebrospinal fluid analysis revealed increased level of total tau and phosphorylated tau and decreased level of amyloid beta‐42 protein, although the extent was modest. Whole‐exome sequencing analysis revealed a known heterozygous de novo mutation p.Phe177Ser in PSEN1, a causative gene for familial Alzheimer's disease. A previously reported pedigree with the same mutation presented with similar phenotypes, indicating genotype‐phenotype correlation. This report illustrated that familial Alzheimer's disease with PSEN1 mutations should be considered in the differential diagnosis of progressive myoclonus epilepsy. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Neurology & Clinical Neuroscience is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Abstract:
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