| CASE REPORT |
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| Year : 2020 | Volume
: 3
| Issue : 1 | Page : 60-64 |
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Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report
Pooja Sharma1, Raja G Shaikh2, Uzma Shamim1, Vaishakh Anand3, Biswaroop Chakrabarty3, Sheffali Gulati3, Akhilesh K Sonakar2, Istaq Ahmad2, Ajay Garg4, Achal K Srivastava2, Mohammed Faruq1
1 Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India
2 Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
3 Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India
4 Department of Neuro-Radiology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Correspondence Address:
Dr. Mohammed Faruq
Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mall Road, New Delhi 110007.
India
 Source of Support: None, Conflict of Interest: None  | 2 |
DOI: 10.4103/AOMD.AOMD_38_19
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DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner. The key clinical manifestations of DRPLA are ataxia, dementia, and myoclonic epilepsy and have variable association with intellectual disability, behavioral changes, epileptic seizures, and choreoathetosis. It is most commonly reported in Japanese population with a prevalence of 0.2–0.7/100,000. Here we report a three-generation first Indian family identified to carry a pathogenic CAG expansion in ATN1 and clinical features conformed to its key manifestations. |
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