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Article

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Movement disorders : official journal of the Movement Disorder Society - 30 Jul 2010

Aggarwal Annu, Schneider Susanne A, Houlden Henry, Silverdale Monty, Paudel Reema, Paisan-Ruiz Coro, Desai Shrinivas, Munshi Mihir, Sanghvi Darshana, Hardy John, Bhatia Kailash P, Bhatt Mohit

Abstract excerpt

Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian-subcontinent NBIA cases are limited. We report 6 patients from the Indian-subcontinent...

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Identifiers

PMID: 20629144
DOI: 10.1002/mds.23095

Genes

PANK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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