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

Movement Disorders : Official Journal of the Movement Disorder Society
Annu AggarwalMohit Bhatt

Abstract

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 with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome. All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA-associated genes [pantothenate kinase 2 (PANK2), PLA2G6 and ferritin light chain (exon 4)]. We present clinical, imaging and genetic data correlating phenotype-genotype relations. Four patients carried PANK2 mutations, two of these were novel. The clinical phenotype was mainly dystonic with generalized dystonia and marked orobulbar features in the 4 adolescent-onset cases. One of the four had a late-onset (age 37) unilateral jerky postural tremor. His mutation, c.1379C>T, appears associated with a milder phenotype. Interestingly, he developed the eye-of-the-tiger sign only 10 years after onset. Two of th...Continue Reading

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Citations

Dec 6, 2012·Journal of Neural Transmission·Susanne A Schneider, Kailash P Bhatia
Aug 10, 2010·Current Neurology and Neuroscience Reports·Susanne A Schneider, Kailash P Bhatia
Feb 3, 2011·Current Neurology and Neuroscience Reports·Allison Gregory, Susan J Hayflick
Jul 28, 2013·Current Treatment Options in Neurology·Susanne A SchneiderNardo Nardocci
Jan 20, 2011·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·N BrüggemannS A Schneider
Nov 23, 2013·Neurology India·Shyamal Kumar DasJharna Ray
May 2, 2013·Case Reports in Neurological Medicine·Natalie Diaz
Jan 8, 2016·Current Neurology and Neuroscience Reports·Susanne A Schneider
Jun 19, 2012·Seminars in Pediatric Neurology·Susanne A Schneider, Kailash P Bhatia
Jun 19, 2012·Seminars in Pediatric Neurology·Michael J Keogh, Patrick F Chinnery
Jan 24, 2012·Neurobiology of Disease·Petr DusekWeidong Le
Oct 28, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderKailash P Bhatia
Jun 6, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Maria StamelouKailash P Bhatia
Mar 25, 2014·Journal of the Neurological Sciences·George A TantelesKleopas A Kleopa
Apr 5, 2016·Movement Disorders Clinical Practice·Vrajesh UdaniRahul Chhabria
Jan 5, 2011·The International Journal of Neuroscience·Chloe Miu MakYan-wo Chan
Oct 23, 2014·Movement Disorders Clinical Practice·Petr DusekSusanne A Schneider
Aug 18, 2020·Neuropsychiatric Disease and Treatment·Hongmei LiuYiru Fang
Jun 30, 2017·Movement Disorders Clinical Practice·Mohammad RohaniAlfonso Fasano
Aug 21, 2020·Parkinsonism & Related Disorders·Francesca MagrinelliKailash P Bhatia

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