Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation

Movement Disorders

Volumn 21, Issue 5, 2006, Pages 718-722

  Liang, Tsao Wei ^a,b,c   Truax, Adam C ^a   Trojanowski, John Q ^a   Lee, Virginia M Y ^a   Stern, Matthew B ^a   Kotzbauer, Paul T ^a,d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Hallervorden Spatz syndrome; Neurodegeneration with brain iron accumulation; Pantothenate kinase; Pantothenate kinase associated neurodegeneration; Tremor

Indexed keywords

AMANTADINE; BACLOFEN; CLONAZEPAM; LEVODOPA; PANTOTHENATE KINASE; PRAMIPEXOLE; PROPRANOLOL; SELEGILINE; TRIHEXYPHENIDYL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN CONTUSION; BRAIN SCINTISCANNING; CASE REPORT; CATALYSIS; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ANALYSIS; FALLING; GENETIC ASSOCIATION; HALLERVORDEN SPATZ DISEASE; HAND TREMOR; HETEROZYGOSITY; HUMAN; IRON METABOLISM; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM;

ARGININE; BRAIN; DNA MUTATIONAL ANALYSIS; GLYCINE; HUMANS; IRON; ISOLEUCINE; MALE; MIDDLE AGED; MUTATION; NEURODEGENERATIVE DISEASES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); TREMOR; VALINE;

EID: 33646898145     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20797     Document Type: Article

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