R Elango

Publications (9)24.09 Total impact

• Article: PINK1 mutations and parkinsonism.

  L Ishihara-Paul, M M Hulihan, J Kachergus, R Upmanyu, L Warren, R Amouri, R Elango, R K Prinjha, A Soto, M Kefi, M Zouari, S B Sassi, S B Yahmed, G El Euch-Fayeche, P M Matthews, L T Middleton, R A Gibson, F Hentati, M J Farrer
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  ABSTRACT: PINK1 loss-of-function causes recessive, early-onset parkinsonism. In Tunisia there is a high rate of consanguineous marriage but PINK1 carrier frequency and disease prevalence have yet to be assessed. The frequency of PINK1 mutations in familial parkinsonism, community-based patients with idiopathic Parkinson disease (PD) (non-familial PD), and control subjects was determined. Demographic and clinical characteristics of individuals with PINK1 homozygous or heterozygous variants, or without PINK1 mutations, were compared. A total of 92 kindreds (with 208 affected and 340 unaffected subjects), 240 nonfamilial PD, and 368 control participants were recruited from the Institut National de Neurologie, Tunis. Clinical examinations included Hoehn &Yahr, UPDRS, and Epworth scales. PINK1 sequencing and dosage analysis was performed in familial index patients, the variants identified screened in all subjects. Parkin and LRRK2 genes were also examined. Four PINK1 homozygous mutations, three novel (Q129X, Q129fsX157, G440E, and one previously reported; Q456X), segregate with parkinsonism in 46 individuals in 14 of 92 families (15%). Six of 240 patients with nonfamilial PD were found with either homozygous Q456X or Q129X (2.5%) substitutions. In patients with familial disease, PINK1 homozygotes were younger at disease onset (36 +/- 12 years) than noncarriers (57 +/- 15 years) and more often had an akinetic-rigid presentation at examination and slow progression. Segregation of PINK1 mutations with parkinsonism within families, and frequency estimates within population controls, suggested only four PINK1 mutations were pathogenic. Several PINK1 sequence variants are potentially benign and there was no evidence that PINK1 heterozygosity increases susceptibility to idiopathic Parkinson disease.
  Neurology 08/2008; 71(12):896-902. · 8.31 Impact Factor
• Article: A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.

  L Warren, R Gibson, L Ishihara, R Elango, Z Xue, A Akkari, L Ragone, Rajesh Pahwa, Joseph Jankovic, Martha Nance, Alan Freeman, Ray L Watts, F Hentati
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  ABSTRACT: The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.
  Parkinsonism & Related Disorders 01/2008; 14(1):77-80. · 3.80 Impact Factor
• Article: Fragile X syndrome among children with mental retardation.

  R Elango, I C Verma
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  ABSTRACT: Prospective screening for fragile X syndrome was carried out among 1,111 patients with mental retardation who attended the Genetic clinic. Using defined clinical criteria, 55 patients were selected for cytogenetic studies to detect folate sensitive fragile sites. Twenty patients were diagnosed to have the fragile X syndrome. The prevalence of fragile X (A) syndrome was 18 per 1,000 patients of both sexes with mental retardation, 2.8% among male patients with mental retardation, and 5.8% among subjects with nonspecific mental retardation.
  The Indian Journal of Pediatrics 04/1996; 63(4):533-8. · 0.52 Impact Factor
• Source

  Available from: indianpediatrics.net

  Article: Variable expression of clinical features of Martin Bell syndrome in younger patients.

  I C Verma, R Elango
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  ABSTRACT: The clinical features of 20 patients of Martin Bell syndrome were analyzed in order to derive diagnostic features in younger patients. The characteristic clinical features comprising long face, large ears and macro-orchidism were commoner in children more than 10 years old than in prepubertal children. This study shows that younger the patient, fewer the classical features exhibited. Hyperactivity was the most useful feature for diagnosis of the younger patient with Martin Bell syndrome.
  Indian pediatrics 05/1994; 31(4):433-8. · 1.05 Impact Factor
• Source

  Available from: indianpediatrics.net

  Article: Cytogenetic studies in Down syndrome.

  I C Verma, S Mathew, R Elango, A Shukla
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  ABSTRACT: Cytogenetic studies were carried out in 645 patients with Down syndrome. Free trisomy of chromosome 21 was present in 600 cases (93%). Translocation karyotypes were observed in 26 cases (4%). Seventeen patients (2.6%) had mosaicism. Two (0.3%) patients had additional karyotypic abnormalities along with trisomy 21.
  Indian pediatrics 10/1991; 28(9):991-6. · 1.05 Impact Factor
• Source

  Available from: nih.gov

  Article: How long after being collected can blood still be cultured for chromosomal studies in the tropics.

  R Elango, S Mathew, I C Verma
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  ABSTRACT: To examine how long after their collection samples of peripheral blood could be successfully cultured for cytogenetic analysis in tropical countries, we determined the mitotic index in cultures of blood stored for up to 7 days in summer and winter. The results indicate that chromosomal analysis is successful if blood is stored for up to 2 days in summer or for up to 4 days in winter before initiating culture. Storing the blood in tissue culture medium rather than in heparin solution did not significantly improve the mitotic index.
  Bulletin of the World Health Organisation 02/1991; 69(3):331-3. · 4.64 Impact Factor
• Article: Prenatal diagnosis of chromosomal disorders in Delhi.

  I C Verma, S Mathew, R Elango, I Khanna
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  ABSTRACT: Prenatal diagnosis of chromosomal disorders was carried out in 144 samples of amniotic fluid during 1986-1989. The commonest indication was pregnancy in women having a previous child with Down syndrome. Cultures were successful in 104 (72.2%) of 144 cases. Three (2.9%) abnormal karyotypes were detected. Of 53 women who had a previous child with Down syndrome, recurrence of trisomy 21 occur d in one (1.9%); while considering all abnormal karyotypes, there were three recurrences (2.9%).
  Indian pediatrics 06/1990; 27(5):459-62. · 1.05 Impact Factor
• Article: Factors which affect growth of amniotic fluid cells.

  S Mathew, R Elango, I Khanna, I C Verma
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  ABSTRACT: In a study on various factors which are known to influence the growth of amniotic fluid cells for successful cytogenetic analysis in 89 samples, amniotic fluid volume greater than 10 ml enhanced the chance of success (P = 0.0003). The presence of red blood cells reduced the success rate although this was not statistically significant. Among the techniques which proved successful were the use of closed culture method (plastic flasks in which 5% CO2 is blown), and the addition of Ultroser G, which enhances the adhesion and growth of amniotic fluid cells.
  The Indian journal of medical research 05/1990; 92:86-8. · 1.84 Impact Factor
• Article: Preliminary report on dermatoglyphic evidence for proto-australoid origin of muria gonds of Bastar (MP).

  I C Verma, R Elango, A Tomar
  The Indian journal of medical research 03/1986; 83:199-201. · 1.84 Impact Factor