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Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Neurogenetics - 1 Apr 2023

Sait Haseena, Srivastava Somya, Pandey Manmohan, Ravichandran Deepak, Shukla Anju, Mandal Kausik, Saxena Deepti, Shambhavi Arya, Majethia Purvi, Rao Lakshmi Priya, Sharma Suvasini, Phadke Shubha R, Moirangthem Amita

Abstract excerpt

Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term encompassing various inherited neurological disorders characterised by abnormal iron accumulation in basal ganglia. We aimed to study the clinical, radiological and molecular spectrum of disorders with NBIA. All molecular-proven cases of NBIA presented in the last 5 years at 2 tertiary care genetic centres were compiled. Demographic details...

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PMID: 36790591
DOI: 10.1007/s10048-023-00712-0

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