Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.

Journal: Movement disorders : official journal of the Movement Disorder Society

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Affiliated Institutions:  Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India. Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India. Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Parkinson and Movement Disorder Centre, Centre for Excellence in Neurosciences, Aster Medcity, Kochi, India. Institute of Bioinformatics, Bengaluru, India. Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology, New Delhi, India. Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India. Department of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.

Abstract summary 

Authors & Co-authors:  Saini Holla Kalikavil Puthanveedu Mehta Elavarasi Pillai Mohapatra Kumari Bari Singh Cherian Krishnan Radhakrishnan Agarwal Garg Garg Singh Garg Muthusamy Lal Kishore Pal Srivastava Faruq Rajan

Study Outcome 

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Statistics
Citations :  Chang X, Zhang J, Jiang Y, Wang J, Wu Y. Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration. CNS Neurosci Ther 2020;26(7):754-761.
Authors :  25
Identifiers
Doi : 10.1002/mds.29737
SSN : 1531-8257
Study Population
Male,Female
Mesh Terms
Other Terms
PANK2;generalized dystonia;neurodegeneration with brain iron accumulation;pallidotomy;pantothenate kinase-associated neurodegeneration
Study Design
Study Approach
Country of Study
Publication Country
United States