Abstract:
:Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinson's disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most commonly reported mutations in LRRK2 gene among Indian PD patients, using PCR-RFLP method. Mutations G2019S, R1441C, R1441G, and R1441H were screened in 1012 individuals (PD, 800; controls, 212) while mutations I2012T and I2020T were screened in 748 PD patients. We did not observe any of these six mutations in this study sample except in a single female young onset PD patient who showed a heterozygous G2019S mutation. The absence of mutations was reconfirmed by sequencing of probands from several autosomal dominant PD families. Our observations suggest that these mutations may be a rare cause of PD among Indians and therefore of little help for diagnostic screening and genetic counseling for Indian PD patients.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Punia S,Behari M,Govindappa ST,Swaminath PV,Jayaram S,Goyal V,Muthane UB,Juyal RC,Thelma BKdoi
10.1016/j.neulet.2006.04.052subject
Has Abstractpub_date
2006-12-01 00:00:00pages
83-8issue
2eissn
0304-3940issn
1872-7972pii
S0304-3940(06)00446-0journal_volume
409pub_type
杂志文章abstract::The extracellular homeostasis of glutamate in the brain is maintained by the efficient uptake into astroglial cells. The high extracellular glutamate levels seen during seizures are therefore probably a result of both an increased synaptic release and a deranged glutamate uptake. In this study we used immuno-blotting ...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(00)01284-2
更新日期:2000-08-11 00:00:00
abstract::Bipolar disorder (BD) is a debilitating mental disorder with complex clinical manifestations and low diagnostic accuracy. Depressive episodes are most common in the course of BD with high comorbidity and suicide rates, which present greater clinical challenges than mania and hypomania episodes. However, there are no o...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2020.135515
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2020.134757
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2004.03.053
更新日期:2004-06-03 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2005.02.065
更新日期:2005-07-01 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
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更新日期:2016-03-23 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(03)00754-7
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(00)01197-6
更新日期:2000-07-07 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(83)90260-4
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(93)90878-o
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(94)90361-1
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(88)90076-6
更新日期:1988-11-11 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2006.08.027
更新日期:2006-10-23 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(94)90952-0
更新日期:1994-09-26 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(86)90174-6
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2012.01.067
更新日期:2012-04-04 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(00)01625-6
更新日期:2000-12-22 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(00)01780-8
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2018.09.038
更新日期:2018-11-20 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(91)90810-g
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(96)12445-9
更新日期:1996-03-15 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(99)00603-5
更新日期:1999-09-24 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(82)90370-6
更新日期:1982-03-17 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2014.09.042
更新日期:2014-11-07 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2011.05.238
更新日期:2011-08-01 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2010.10.052
更新日期:2011-01-10 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(87)90418-6
更新日期:1987-05-19 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(01)01667-6
更新日期:2001-04-20 00:00:00