scholarly journals Genomewide linkage study of modifiers of LRRK2 -related Parkinson's disease

2011 ◽  
Vol 26 (11) ◽  
pp. 2039-2044 ◽  
Author(s):  
Jeanne C. Latourelle ◽  
Audrey E. Hendricks ◽  
Nathan Pankratz ◽  
Jemma B. Wilk ◽  
Cheryl Halter ◽  
...  

2014 ◽  
Vol 50 (14) ◽  
pp. 2456-2462 ◽  
Author(s):  
E.L. Ong ◽  
Raph Goldacre ◽  
Michael Goldacre


BMC Neurology ◽  
2003 ◽  
Vol 3 (1) ◽  
Author(s):  
Karin Wirdefeldt ◽  
Catherine E Burgess ◽  
Lisa Westerberg ◽  
Haydeh Payami ◽  
Martin Schalling


2017 ◽  
Author(s):  
Han-Xiang Deng ◽  
Teepu Siddique

We recently reported mutations in TMEM230 in familial Parkinson’s disease (PD). Farrer et al raised the concern that mutations in TMEM230 may not be pathogenic to PD. We seriously evaluated Dr. Farrer’s assertions. We obtained updated clinical information and performed several new experiments, including MegaEx chip screening of the family DNA samples with ∼2 million SNPs for whole-genome linkage study and re-analysis of whole-exome sequencing data. We did not find any other locus more robust than the chromosome 20p (TMEM230), nor any other variants with better segregation than TMEM230-R141L to explain the inheritance of PD in the large Mennonite family. Based on the new genetic data from the Mennonite PD family, and the robust genetic data showing additional TMEM230 mutations in multiple PD families, we are confident to conclude that TMEM230 is a new PD-causing gene. Further studies of TMEM230 should provide important mechanistic insights into understanding the vesicle/endosome trafficking/recycling defects in the pathogenesis of PD.



Author(s):  
Nuriye Yıldırım Gökay ◽  
Bülent Gündüz ◽  
Fatih Söke ◽  
Recep Karamert

Purpose The effects of neurological diseases on the auditory system have been a notable issue for investigators because the auditory pathway is closely associated with neural systems. The purposes of this study are to evaluate the efferent auditory system function and hearing quality in Parkinson's disease (PD) and to compare the findings with age-matched individuals without PD to present a perspective on aging. Method The study included 35 individuals with PD (mean age of 48.50 ± 8.00 years) and 35 normal-hearing peers (mean age of 49 ± 10 years). The following tests were administered for all participants: the first section of the Speech, Spatial and Qualities of Hearing Scale; pure-tone audiometry, speech audiometry, tympanometry, and acoustic reflexes; and distortion product otoacoustic emissions (DPOAEs) and contralateral suppression of DPOAEs. SPSS Version 25 was used for statistical analyses, and values of p < .05 were considered statistically significant. Results There were no statistically significant differences in the pure-tone audiometry thresholds and DPOAE responses between the individuals with PD and their normal-hearing peers ( p = .732). However, statistically significant differences were found between the groups in suppression levels of DPOAEs and hearing quality ( p < .05). In addition, a statistically significant and positive correlation was found between the amount of suppression at some frequencies and the Speech, Spatial and Qualities of Hearing Scale scores. Conclusions This study indicates that medial olivocochlear efferent system function and the hearing quality of individuals with PD were affected adversely due to the results of PD pathophysiology on the hearing system. For optimal intervention and follow-up, tasks related to hearing quality in daily life can also be added to therapies for PD.





2004 ◽  
Vol 9 (2) ◽  
pp. 10-13
Author(s):  
Linda Worrall ◽  
Jennifer Egan ◽  
Dorothea Oxenham ◽  
Felicity Stewart


2007 ◽  
Vol 12 (1) ◽  
pp. 2-11
Author(s):  
Lorraine Ramig ◽  
Cynthia Fox


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