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Biomedical subjects

E K Tan

Publications and source records attributed to E K Tan.

At least 73 records · Page 4Linked to original sources
PubMed2002

Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore.

We report the prevalence and ethnic differences of autosomal-dominant cerebellar ataxia (ADCA) in Singapore. Amongst 204 patients with ataxia who underwent genetic testing for dentatorubral-pallidoluysian atrophy (DRPLA) and for spinocerebellar ataxias (SCA) 1, 2, 3, 6, 7, 8, 10 and 12, 58 (28.4%) patients from 36 families tested positive. SCA 3 was identified in 31 (53.4%) patients from 15 families, SCA 2 in 17 (29.3%) patients from 12 families and SCA 1 in four (6.9%) patients from four families. Other SCA subtypes were rare. SCA 2 was the only subtype identified amongst ethnic Malay and ethnic Indian families. The estimated prevalence of ADCA in Singaporean families was at least 1 : 27,000. Based on the history and ancestry of Singaporeans, our study supported a founder effect for specific SCA subtypes and the association of ethnicity-specific SCA subtypes. 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.

Cerebellar Ataxia↗
PubMed2002

Diffusion weighted MR imaging in acute stroke: the SGH experience.

Cerebrovascular accident (CVA) is a leading cause of death and disability in many countries. Diffusion-weighted (DW) magnetic resonance (MR) imaging has been reported to be useful in the detection of acute strokes and as an investigative tool evaluating the therapeutic effects of neuroprotective and thrombolytic agents. The objectives of this study are to share our experience using the commercially available isotropic DW scan in imaging of acute stroke, assess its usefulness over conventional T2-weighted (T2W) scans in a busy clinical radiology unit and highlight it pitfalls. We found the rapid sub-minute DW technique well suited for ill and restless stroke patients and superior to T2W scans in many ways. It was highly sensitive to acute ischaemic lesions, made lesions easily identifiable and readily differentiated the acute lesion from a background of multiple chronic infarcts. However, there are potential pitfalls in the evaluation of small hyperacute posterior fossa strokes and venous infarcts. The major strength of this MR technique lies in its ability to diagnose hyperacute strokes and thence the potential for therapeutic thrombolysis, but unfortunately patients qualifying for the "therapeutic window" were a minority. More efforts need to be focused on public education in order for this powerful imaging modality to find its true value and contribute to viability of an effective thrombolytic programme.

Adult↗
PubMed2001

Reversible parkinsonism in systemic lupus erythematosus.

Parkinsonism as a manifestation of central nervous system (CNS) lupus is extremely rare. We report the first patient with systemic lupus erythematosus (SLE) who developed a reversible parkinsonian syndrome associated with enhancing subcortical lesions on magnetic resonance imaging (MRI). Following treatment with prednisolone and cyclophosphamide, her bradyphrenia, bradykinesia, hypophonia, rigidity, and abnormal gait progressively improved. Three months after she commenced treatment, repeat MRI scanning demonstrated resolution of the abnormal subcortical white matter enhancement. Our case illustrates unusual clinico-radiologic correlates of reversible parkinsonism in a SLE patient; these findings suggest that disruption of the subcortical frontal pathways may be a possible pathophysiologic mechanism for parkinsonism in cerebral lupus.

Brain↗
PubMed2001

Recurrent jaw dislocation after botulinum toxin treatment for sialorrhoea in amyotrophic lateral sclerosis.

Botulinum toxin (BTX) has been used successfully to treat various movement disorders, and is increasingly used for many other medical conditions. Sialorrhoea is a disabling symptom in many neurological patients including those with Parkinson's disease, stroke and amyotrophic lateral sclerosis (ALS). BTX has recently been shown to be effective for treating sialorrhoea. We report an ALS patient who developed recurrent jaw dislocation following BTX treatment for sialorrhoea to highlight the observation that intraparotid BTX may be complicated by jaw dislocations in some at-risk ALS patients. Clinicians using BTX to treat sialorrhoea in ALS need to be aware of this potentially serious complication.

Aged↗
PubMed2001

Alcohol dehydrogenase polymorphism and Parkinson's disease.

A particular alcohol dehydrogenase (ADH) polymorphism (allele A1) in the promoter region of the gene has been recently demonstrated to be associated with increased risk of Parkinson's disease (PD). In a case control study, we examine frequencies of ADH A1 allele in 100 PD patients (i.e. 200 alleles), 100 diseased controls (i.e. 200 alleles), and 194 healthy controls (i.e. 388 alleles). In addition, we study possible association of a combined non-amyloid component of plaque (NACP-Rep 1) allele and ADH A1 allele with risk of PD. There was no statistical significance of the frequencies of ADH A1 allele between PD patients 12/200 (6%), diseased controls 13/200 (6.5%), and healthy controls 20/388 (5.2%). No strong evidence of an association was found between ADH A1 allele and PD susceptibility in our study patients. There was also no suggestion of linkage disequilibrium between NACP-Rep 1 and ADH A1 alleles.

Adult↗
PubMed2001

Genetic testing in spinocerebellar ataxias: defining a clinical role.

Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention. Currently available DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs. Certain characteristic clinical features and ethnic predilection of some of the SCA subtypes may help prioritize specific SCA gene testing. Available data on genotype-phenotype correlation suggest that currently available DNA tests cannot accurately predict age of onset or prognosis. Because of the mostly adult-onset symptoms and the absence of effective treatment, genetic counseling is essential for addressing ethical, social, legal, and psychological issues associated with SCA DNA testing.

Animals↗
PubMed2001

Restless legs syndrome in an Asian population: A study in Singapore.

In face-to-face interviews, we examined 157 consecutive individuals aged 55 years and older, selected from the general population in Singapore, and 1,000 consecutive individuals aged 21 years and older, from a primary healthcare center. Based on the IRLSSG criteria, the prevalence of restless leg syndrome (RLS) was 0.6% and 0.1%, respectively.

Adult↗
PubMed2001

Complex movement disorders following bilateral paramedian thalamic and bilateral cerebellar infarcts.

Complex movement disorders (CMD; including tremor, dystonias, choreoatheosis, and myoclonus) following infarcts in the posterior and posterolateral thalamic nuclei have been reported. 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.

Athetosis↗
PubMed2001

Psychogenic hemifacial spasm.

Facial spasms that distort facial expression are typically due to facial dystonia, tics, and hemifacial spasm (HFS). Psychogenic facial spasms, however, have not been well characterized. The authors sought to 1) determine prevalence of psychogenic facial spasm in patients referred for evaluation of HFS and 2) draw attention to clinical characteristics and potential diagnostic pitfalls. Among 210 consecutive patients referred for evaluation of HFS, 5 (2.4%) received diagnoses of psychogenic facial spasm. All patients were female; mean age was 34.6 years (range 26-45) and mean symptom duration 1.1 years (range 2 wk-2 yr). Onset was left-sided in 3 patients, and the lid was the initial site affected in 2 patients. This series of patients shows that facial spasms, although usually of neurovascular etiology, may be the initial or only manifestation of a psychogenic movement disorder, often associated with an underlying depression.

Adult↗
PubMed2001

Motor restlessness.

Motor restlessness, characterised by an irresistible urge to move about, can be a manifestation of many underlying disorders. Unfortunately, it is often poorly recognised and underdiagnosed in clinical practice, possibly because patients do not seek medical attention, or their complaints were thought to be secondary to anxiety. While the two major conditions to consider are restless legs syndrome and neuroleptic-induced akathisia, there are many other differential diagnoses. We provide a concise review of the clinical features and diagnostic pitfalls of these conditions. A proper detailed clinical history and examination can often help clinch the diagnosis, as most of these conditions have their unique clinical features.

Adult↗
PubMed2000

Variability and validity of polymorphism association studies in Parkinson's disease.

BACKGROUND: In recent years, interest in gene-environment interactions has spurred a great number of association studies on polymorphism of different genes. OBJECTIVE: To review case-control studies of genetic polymorphisms in PD, and perform meta-analysis of individual gene polymorphism. METHODS: The authors searched the Medline database (PubMed) for publications (English language) from January 1966 to November 1999 for association studies in PD. The key words used were "PD" and "polymorphism." The authors supplemented the search with relevant references quoted in these published articles. Those with four or more independent studies of a specific gene polymorphism were subjected to meta-analysis, with the exception of cytochrome-P450 enzyme polymorphisms, for which meta-analyses results were already available in the literature. RESULTS: The authors identified 84 studies on 14 genes, including dopamine receptors (DRD2 and DRD4), dopamine transporter (DAT), monoamine oxidase (MAOA and MAOB), catechol-O-methyltransferase (COMT), N-acetyltransferase 2 (NAT2), APOE, glutathione transferase (GSTT1, GSTM1, GSTP1, and GSTZ1), and mitochondrial genes (tRNAGlu and ND2). Four polymorphisms showed significant association with PD: slow acetylator genotypes of NAT2 (PD:control OR = 1.36), allele >188bp of the MAOB (GT)n polymorphism (OR = 2.58), the deletion allele of GSTT1 (OR = 1.34), and A4336G of tRNAGlu (OR = 3.0). No significant differences were found for the other genes. CONCLUSION: Significant associations with PD were found in polymorphisms of NAT2, MAOB, GSTT1, and tRNAGlu. Although significant association does not imply a causal relationship between the presence of the polymorphisms and PD pathogenesis, their pathophysiologic significance should be studied further.

Apolipoproteins E↗
PubMed2000

Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor?

An allele (263bp) of the nonamyloid component of plaques (NACP)-Repl polymorphism has shown association with sporadic PD in a German population. The authors studied this polymorphism in 100 American PD patients and 100 healthy controls. The authors also studied 46 essential tremor (ET) and 55 Huntington's disease (HD) patients. Allele 263bp was significantly higher in PD patients (OR = 3.86) and ET patients (OR = 6.42) but not HD patients, compared with healthy controls. The association of allele 263bp with PD and ET suggests a possible etiologic link between these two conditions.

Adult↗
PubMed2000

Clinical characteristics of pramipexole-induced peripheral edema.

BACKGROUND: Pramipexole, a new dopamine agonist, effectively treats early and advanced Parkinson disease and restless legs syndrome. OBJECTIVES: To report the clinical features of and to investigate the predisposing factors and eventual outcomes in patients who developed peripheral edema (PE) following treatment with pramipexole. DESIGN: Retrospective case series in a tertiary referral center. RESULTS: Of the 300 patients who were receiving pramipexole therapy, 17 patients had mild to severe PE, which was attributable to the medication. Fifteen patients had Parkinson disease and 2 patients had restless legs syndrome. The mean (+/-SD) time of onset of PE after pramipexole therapy was started was 2.6 +/- 3.6 months (range, 0.25-11 months). The mean (+/-SD) dose at onset of PE was 1.7 +/- 1.0 mg/d (dose range, 0.75-3 mg/d) and the mean (+/-SD) dose when PE was at its maximum was 2.6 +/- 0.7 mg/d (dose range, 1.5-3 mg/d). In all cases, the PE rapidly abated with discontinuation of therapy, and in all cases that we rechallenged, it rapidly returned. The condition seemed to be dose dependent but also idiosyncratic, as we could not identify any predisposing features. It resulted in extensive medical evaluation in some patients and was only minimally responsive to diuretic therapy. CONCLUSION: Peripheral edema should be included among the potential adverse events associated with pramipexole therapy.

Adult↗