Journal
PARKINSONISM & RELATED DISORDERS
Volume 15, Issue 9, Pages 627-632Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2009.06.007
Keywords
Parkinson disease; Parkinsonian conditions; Autosomal dominant parkinsonism; Alpha-synuclein; A53T mutation; Ala53Thr; A53T; Biomarkers; CSF examination; Cerebrospinal fluid; Neuroimaging; Longitudinal clinical follow-up; Haplotype analysis; SPECT; Single-photon emission computed tomography; Myoclonus; Electroencephalogram; Magnetic resonance imaging
Categories
Funding
- NIH/NINDS Morris K. Udall Center for Excellence in PD Research at Mayo Clinic [P50 NS40256]
- NIH/NIA [P01AG017216, R01AG015866]
- Pacific Research Alzheimer's Foundation [PARF C06-01]
Ask authors/readers for more resources
A de novo alpha-symaclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an underlying encephalopathy with cortical involvement. The mutated allele (c.209A) was present within a haplotype different from that shared among mutation carriers in the Italian (Contursi) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state. (C) 2009 Elsevier Ltd. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available