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

Movement Disorders

Volumn 25, Issue 10, 2010, Pages 1424-1431

  Aggarwal, Annu ^a   Schneider, Susanne A ^b,c   Houlden, Henry ^d   Silverdale, Monty ^e   Paudel, Reema ^d   Paisan Ruiz, Coro ^d   Desai, Shrinivas ^f   Munshi, Mihir ^a   Sanghvi, Darshana ^a   Hardy, John ^d   Bhatia, Kailash P ^c,g   Bhatt, Mohit ^a  

^a KOKILABEN DHIRUBHAI AMBANI HOSPITAL   (India)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e HOPE HOSPITAL   (United Kingdom)

^f JASLOK HOSPITAL AND RESEARCH CENTRE   (India)

^g NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Dystonia; Eye of the tiger sign; MRI; Neurodegeneration with brain iron accumulation; Parkinson's disease

Indexed keywords

CERULOPLASMIN; FERRITIN; LEVODOPA; PANTOTHENATE KINASE 2;

ADULT; ARTICLE; BASAL GANGLION; CLINICAL ARTICLE; DYSKINESIA; DYSTONIA; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDIA; MALE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PARKINSON DISEASE; PRIORITY JOURNAL; TREMOR;

ADULT; ARGININE-TRNA LIGASE; CERULOPLASMIN; FEMALE; FERRITINS; HUMANS; INDIA; IRON METABOLISM DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 77955005938     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23095     Document Type: Article

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