Eng King Tan

..20-2.83; p = 0.006). Haplotype analysis suggests an ancestral founder for carriers approximately 2,500 years ago. These findings support the importance of LRRK2 variants in sporadic Parkinson's disease. Ann Neurol 2008...

..78-2.9). A higher frequency of G2385R carriers has been observed in familial PD when compared with sporadic patients. Based on current evidence, certain common genetic variants are likely to modulate the risk of PD...

..0 +/- 5.0 vs. 11.0 +/- 6.0; P = 0.001) following appropriate management. As stress and anxiety can aggravate HFS, diagnosis and early management of anxiety symptoms can improve quality of life in these patients...

..Further functional studies of the S18Y variant in both cell and animal models will be of interest...

..If age is a major determinant of the etiology or influences the presentation of HFS, there may be clinical differences between the young and elderly HFS patients...

..99 (95% CI 0.84-1.16, p=0.88). A multivariate logistic regression analysis showed that family history, UCHL1 variant and the interaction of UCHL1 variant and age at onset (p=0.816) were not significantly associated with PD...

..05). Our study demonstrated no significant increased risk of HFS amongst the general PD population and hence HFS symptoms are unlikely to be of clinical importance for most PD patients...

..We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of non-European ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP...

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..Our clinical and laboratory data provide corroborative evidence that some older individuals who have the -258G variant may have a higher risk of developing PD...

..Altered splicing of parkin under cellular stress could lead to changes in gene expression and altered protein activity. The causative role of parkin in sporadic Parkinson's disease (PD) is unknown...

..Acute dysregulation of pallidal efferents to the pedunculopontine and/or pontine afferents to the thalamus may precipitate hemidystonia...

..Depression impairs psychosocial and occupational functioning and contributes to significant morbidity and mortality. Hemifacial spasm (HFS) causes social embarrassment and visual and verbal disability...

..While factors affecting drug usage in PD are well recognised, cost and efficacy of a drug appear to be overriding practical factors in influencing usage pattern in clinical practice...

..Specific MDR1 alleles of the 2 SNPs are positively selected among ethnic Chinese but not in the white population...

..However, the role of alpha-synuclein mRNA expression in select groups of sporadic PD patients and its interaction with environmental agents need to be further determined...

..The haplotype is likely to be more ancient than the G2019S mutation because it is also found in a population with a very low carrier rate...

..We examined the relationship between knowledge of disease with improvement in QOL following botulinum toxin treatment in HFS patients...

..3% of AD compared to 4.5% in controls (odds ratio=0.94, 95% CI 0.37-2.42, p=1.0). The Gly2385Arg variant does not appear to modulate the risk of AD in our population...

..Both caffeine and its main metabolite, paraxanthine, may be neuroprotective. The association between caffeine intake and risk of Parkinson's disease (PD) in fast and slow caffeine metabolizers has not been compared...

..Further validation of our findings in other populations would be important...

..The relevance of Gly2385Arg as a genetic risk factor may be restricted to selected Asian races, and more studies will be needed to confirm our observations...

..9%) ET patients compared to 10/247 (4.0%) of controls (odds ratio=0.72, 95% CI 0.24, 2.1, p=0.6). All the Gly2385Arg carriers were heterozygotes. The LRRK2 Gly2385Arg variant is not a significant risk factor for ET in our population...

..Penetrance of some of the recurrent mutations is incomplete and may vary with age. Further research to unravel the etiopathology could identify biochemical or genetic markers for potential neuroprotective trials...

..In our Asian population, patients with PD were 5 to 10 times more likely to have ET compared to diseased and healthy controls, suggesting that the association of ET and PD is unlikely to be ethnicity-specific...

..The identification of the LRRK2 Gly2385Arg variant could potentially facilitate the development of clinical, bioimaging, genetic and biological biomarkers, useful in the monitoring and neuroprotective therapy in asymptomatic individuals...

..However, the pathological basis why the facial region was selectively involved in our patient is unclear. Early recognition of the symptoms and signs would facilitate investigations for an underlying cause...

..Further clinical, imaging, pharmacologic, and genetic studies will be needed to address the many unanswered questions related to the link between RLS and PD...

..These observations appear to transcend ethnic and cultural differences and lend further support that gender difference may play a role in the pathogenesis and expression of ET...

..In addition, a concise summary of the clinical phenomenology of tics and the diagnosis and management of psychogenic movement disorders is provided...

..0001). The severity of CTS was not significantly associated with the motor restlessness. Our observations suggest that entrapment syndromes such as CTS can be associated with a form of restlessness in the hands, analogous to RLS...

..5% vs 16.7%) and genotype frequency was not significantly different between Alzheimer's disease (AD) and controls. Logistic regression analysis did not reveal any interaction between ApoE4 allele and CALHM1 allele...

..Our study suggests that Nurr1 variability is unlikely to play a major role in the majority of our PD patients...

..The MAO B G/A genotype frequency in our Asian population was quite different from Caucasians suggesting that ethnicity specific effects need to be considered in evaluating gene-environmental interaction...

..The Taq1A and Taq1B polymorphisms were in strong linkage disequilibrium. There was, however, no significant association of the two polymorphisms with PD...

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..In conclusion, while RLS-like symptoms were observed in some patients with thyroid disorders, our study demonstrates no significant difference of RLS prevalence between patients with thyroid disorders and euthyroid controls...

..Here we provide details of the clinical characteristics of Piribedil-induced sleep attacks in these PD patients...

..Variability of the microsatellite region and potential interacting factors that could affect alpha synuclein gene transcription should be further examined...

..Our findings suggest that SCA 2 is relatively common amongst the Malay race and that priority testing for SCA 3 and SCA 2 for ethnic Chinese, and SCA 2 for ethnic Malay, may be cost effective and relevant for the region...

..As RLS responds to dopaminergic medications, an etiologic link between RLS and Parkinson's disease (PD) has been proposed. However, few studies have examined this association...

..Epworth Sleepiness Scale scores of > or =10 had 71.4% sensitivity and 88.4% specificity for SA...

..This case of a 59-year-old man who developed CMD following bilateral paramedian and bilateral cerebellar infarcts illustrates the lack of anatomic specificity and the diverse pathophysiology which may underlie CMD...

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..Clinicians using BTX to treat sialorrhoea in ALS need to be aware of this potentially serious complication...

..These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low...

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..Hemifacial spasm (HFS) can be disabling and affect quality of life. There is a lack of a validated scale for evaluating botulinum toxin (BTX) response in HFS...

..Unlike Parkin, pathogenic DJ-1 mutations appear to be restricted to certain populations and are unlikely to be of clinical importance in our Asian cohort...

..RLS symptoms can complicate thyroxine replacement in at-risk hypothyroid patients with low serum ferritin. Early diagnosis and iron replacement could significantly reduce patient morbidity...

..0001) with risk of PD after correction for the effects of age, sex, and the other polymorphic loci. Specific four-loci and six-loci haplotypes were significantly associated with an increased or decreased risk of PD...

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..The marked cutaneous arteriolar smooth muscle cell hypertrophy may be a useful surrogate marker for those at risk of developing angiographic moyamoya...

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..Clinico-radiologic correlates utilizing advanced imaging techniques have not been systematically examined in bilateral HFS. The prevalence of bilateral HFS in an Asian population has not been clarified...

..It can be concluded that the G 2019 S and I 2020 T mutations in exon 41 of LRRK 2 gene are rare causes of Parkinson disease in a Polish population...

..Researchers have recently provided valuable information on the pathogenesis of the disease and hopefully a cure will be available in the near future...

..The role of functional COMT haplotypes in PD susceptibility and treatment response has not been examined...

..The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population...

..G2385R and p.R1628P showed higher kinase activity than wild type. We provided the first evidence that multiple LRRK2 variants exert an individual effect and together modulate the risk of PD among Chinese...

..Together, our results suggest a potential link between LRRK2, parkin, and mitochondria in the pathogenesis of LRRK2-related parkinsonism...

..However, in vivo functional studies and segregation analysis in large pedigrees will be needed to determine if these single heterozygous variants represent rare mutations, risk alleles or benign polymorphisms...

..RLS did not play an important role in sleep dysfunction in our PD cohort. A high index of suspicion for sleep problems in advanced PD patients is important as early management could improve their quality of life...

..However, in the long-term follow-up of patients who present with an ET phenotype, clinicians should be vigilant for other neurological signs, which may be point to an alternate diagnosis...

..Our observational study suggests that the status the functional COMT(L) variant may be potentially useful to select PD patients for high dose pyridoxine therapy...

..Recent discoveries of disease-causing genes in Parkinson's disease (PD) have generated considerable interest regarding genetic testing in PD. The attitudes toward genetic testing are largely influenced by knowledge and preconceived notions...

..Dysfunction of the efferent and/or afferent thalamic or striatopallidal tracts may play a role in bruxism. Early recognition of bruxism following stroke could reduce unnecessary suffering since the condition can be effectively treated...

..There was a weak protective effect of the haplotype 2677G-3435C in our white population. However, the MDR1 haplotypes did not generally modulate the risk of PD...

..We report an elderly lady with intractable focal seizure who presented with more than a year of persistent hand spasms. The clinical importance of differentiating epilepsy from movement disorders is discussed...

..001, chi2 14.3). Our study suggests that family history information reported by ET patients was inaccurate, and poorly validated. Clinical and genetic studies in ET should take the limitation of family history data into consideration...

..Several studies on Caucasian and Japanese had reported contradicting results. We determined these polymorphisms in 118 Chinese patients with IgAN and 94 healthy Chinese to assess their clinical impact...

..Several studies on Caucasians and Japanese patients have reported contradictory results. We determined these polymorphisms in 118 Chinese patients with IgAN and 94 healthy Chinese subjects to assess their clinical impact...

..While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-generalized forms of sporadic dystonia. An 18-bp deletion in the DYT1 gene has also been reported...

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..Further in vitro and in vivo studies will unravel the role of LRRK2 in cell signaling and its impact on proliferation, differentiation, and survival of neurons...

..Green tea drinking was unrelated to Parkinson's disease risk. Diet had no strong influence on risk. Ingredients of black tea other than caffeine appear to be responsible for the beverage's inverse association with Parkinson's disease...

..Initiation of immunosuppressive therapy dramatically improved the patient's Graves' disease within 2 weeks but the neurological symptoms were not alleviated after a follow-up period of 3 years...

..The basis for this novel finding is unclear, and further studies are warranted to determine whether it is related to cerebellar or motor cortical dysfunction...

..Taken together, our results demonstrate that zLRRK2 is an ortholog of hLRRK2 and that the deletion of WD40 domain of zLRRK2 provides a disease model for PD...

..As such, we hope that MDPD will serve as a valuable tool to bridge the gap between genetic analysis and clinical practice. MDPD is publicly accessible at http://datam.i2r.a-star.edu.sg/mdpd/...

..Our case control study provides further support that VLM compression is associated with hypertension in HFS...

..Early recognition and switching into another antiepileptic medication may help reduce unnecessary suffering in these patients...

..The long-term cost effectiveness of treatment and immunoresistance from repeated injections are also important clinical issues to address...

..Elucidation of the functions of the proteins encoded by the diseasecausing genes will provide an opportunity for identification of specific pathways that could be targeted in neurotherapeutics...

..3, 95% CI 1.4- 7.9, P = 0.007). We provided an independent confirmation that the R1628P variant increases the risk of PD among Chinese...