Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

Naiya, Tufan; Biswas, Arindam; Neogi, Rajarshi; Datta, Somnath; Misra, Amar Kumar; Das, Shyamal Kumar; Ray, Kunal; Ray, Jharna

doi:10.1111/j.1600-0404.2006.00663.x

Cited by 25 publications

(24 citation statements)

References 37 publications

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“…However, our patients showed a later age at onset than Italians [15]. The data about age at onset in females and males (females 12 ± 5.5, males 15 ± 13) is also unlike most of previously published data, which showed earlier age at onset in males [16,17,27]. …”

Section: Discussioncontrasting

confidence: 54%

“…With regard to generalization rates (87.5% in positive and 50% in overall PTD patients), while most of our patients had generalized form, most patients in other studies have been reported with focal dystonia [17,26,28]. It might be because of our patients’ earlier age at onset, since according to some data, later onset age may protect the patient from disease progression [18].…”

Section: Discussionmentioning

confidence: 67%

“…To the best of our knowledge there has been no previous report about its clinical features, mutation screening, or genotype-phenotype correlation amongst people of Iran or neighboring countries prior to this report. We reported 63 Iranian non-Jewish patients with primary dystonia with a high frequency of DYT1 mutation, comparing with other populations [12,13,14,15,16,17,18,19,20,21,22,23,24,25]. …”

Section: Discussionmentioning

confidence: 99%

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Clinical Features, DYT1 Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

et al. 2012

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Objective: To test Iranian patients with primary torsion dystonia to determine the frequency of 904–906 del GAG mutation in the DYT1 (TOR1A) gene and to investigate the genotype-phenotype association for this disease. Subjects and Methods: Sixty-three patients with primary dystonia were investigated. DNA was extracted from peripheral blood and these samples were subjected to PCR-sequencing for exon 5 of the DYT1 gene. Results: Of the 63 patients, 10 (15.9%) carried the triplet GAG deletion mutation; this is a high DYT1-positive rate in comparison with other populations and the type of dystonia in this positive group was generalized in all except 1. In our patients, limbs were the most severely involved site at the time of onset and in most cases it developed to generalized form. The majority of DYT1-positive cases showed higher leg onset (5 patients, 62.5%) in comparison with higher arm onset in negative patients (20 patients, 50%). Also, the progression to generalized dystonia in DYT1-positive patients was significantly higher than in DYT1-negative patients. The mean age at onset was 8.6 ± 1.6 years (7–12 years) in DYT1-positive patients, while mean age at onset in patients with no GAG deletion mutation was higher (15.7 ± 11.5 years). Conclusions: The DYT1 904–906 del GAG mutation is responsible for some of Iranian dystonia patients, and screening for the DYT1 deletion is significant in cases with the generalized type of primary dystonia. Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia cases.

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Section: Discussioncontrasting

confidence: 54%

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 99%

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Clinical Features, DYT1 Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

et al. 2012

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“…The common D216H SNP has been shown to increase the risk for patients with primary dystonia who have a positive family history [31]. In contrast, the H216 variant was protective in another study including only a few Indian patients [32] and showed no correlation at all in other reports [30,33]. However, two other polymorphisms close to the 3′ untranslated region, as well as a specific DYT1 haplotype, were strongly associated with idiopathic dystonia in a mixed German/Austrian [33] and an Icelandic study population [34].…”

Section: Identification Of Susceptibility Factorsmentioning

confidence: 92%

Genetics of Primary Torsion Dystonia

Brüggemann

Klein

2010

Curr Neurol Neurosci Rep

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Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. Further, we review current knowledge regarding genetic modifiers and susceptibility factors. Because recognizing and diagnosing monogenic dystonias have important implications for patients and their families with regard to counseling, prognosis, and treatment, we highlight clinical "red flags" of individual subtypes and review guidelines for genetic testing.

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“…For quick screening of nucleotide variants, PCR products were subjected to Single Stranded Conformation Polymorphism (SSCP) analysis, as described previously [2,16]. The DNA fragments showing band shifts were subjected to bi-directional DNA sequencing to identify nucleotide variants as compared to the wild-type DJ-1 gene sequence (GenBank ID: AB015652).…”

Section: Screening Of the Dj-1 Genementioning

confidence: 99%

DJ-1Variants in Indian Parkinson’s Disease Patients

Sadhukhan

Biswas²,

Das³

et al. 2012

Disease Markers

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Abstract. Parkinson's disease (PD) is a common neurodegenerative movement disorder. Among the candidate genes, DJ-1 accounts for about 1% of the cases in different populations. We aim to find the contribution of the gene towards PD among Indians. By screening DJ-1 in 308 PD patients of eastern India and 248 ethnically matched controls, a total of 21 nucleotide variantsincluding two nonsynonymous changes -were detected. p.Arg98Gln was identified in 6 unrelated patients and 2 controls while p.Val35Ile, a novel change, was found only in 2 unrelated patients. A SNP (rs7517357) was observed to be moderately associated with increased risk of PD (p < 0.05). The deletion allele (g.168 185del) of a known 18 bp del/ins/dup polymorphism was found to be over represented (p < 0.05) among older patients (> 40 years) compared to the controls (> 45 years). Two of the patients, also heterozygotes for PINK1 mutation, had more severe disease phenotypes, consistent with the reported interaction between PINK1 and DJ-1 gene products [19]. Our results demonstrate that up to 3.9% (12/308) of PD patients of eastern India harbor DJ-1 variants that should be explored further for any causal relationship with PD.

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Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

Abstract: Our results suggest that the DYT1 gene might have a limited role in causation of dystonia in the Indian population.

Cited by 25 publications

References 37 publications

Clinical Features, <b><i>DYT1</i></b> Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

Clinical Features, <b><i>DYT1</i></b> Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

Genetics of Primary Torsion Dystonia

DJ-1Variants in Indian Parkinson’s Disease Patients

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