PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease

Neuroscience Letters

Volumn 407, Issue 2, 2006, Pages 162-165

  Matarin, M M ^a   Singleton, A B ^a   Houlden, H ^b  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Mutation; NBIA; Neurodegeneration; PANK2; PKAN

Indexed keywords

IRON; PANTOTHENATE KINASE; PANTOTHENATE KINASE 2; UNCLASSIFIED DRUG;

ACANTHOSIS; ADULT; ARTICLE; CEREBELLAR ATAXIA; CORTICOBASAL DEGENERATION; DEMENTIA; DYSTONIA; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYPOBETALIPOPROTEINEMIA; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; NERVE DEGENERATION; NEUROAXONAL DYSTROPHY; NEUROPATHY; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PYRAMIDAL SIGN; RETINITIS PIGMENTOSA; SHY DRAGER SYNDROME;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; BRAIN CHEMISTRY; ELECTROENCEPHALOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; GENE FREQUENCY; HUMANS; INFANT, NEWBORN; IRON; IRON METABOLISM DISORDERS; MAGNETIC RESONANCE IMAGING; MOLECULAR SEQUENCE DATA; MUTATION; NERVE DEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PREGNANCY;

EID: 33748711220     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2006.08.030     Document Type: Article

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