Cerebrotendinous xanthomatosis with predominant Parkinsonian syndrome: Further confirmation of the clinical heterogeneity

Movement Disorders

Volumn 15, Issue 5, 2000, Pages 1017-1019

  Masuhr, Florian ^a   Wissel, Jörg ^b   Müller, Jörg ^b   Scholz, Udo ^a   Poewe, Werner ^b,c  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF INNSBRUCK   (Austria)

^c Universitätsklinikum für Unfallchirurgie   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; DNA; LEVODOPA;

ADULT; ANAMNESIS; AUTOSOMAL RECESSIVE DISORDER; BILE ACID SYNTHESIS; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA SEQUENCE; ENZYME DEFECT; FAMILY HISTORY; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; LABORATORY TEST; MALE; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATION; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PSYCHOLOGIC TEST; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; SYMPTOM; TRANSTHORACIC ECHOCARDIOGRAPHY;

BLOTTING, SOUTHERN; CASE REPORT; CYTOCHROME P-450 ENZYME SYSTEM; HOMOZYGOTE; HUMAN; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGE; MUTATION, MISSENSE; PARKINSONIAN DISORDERS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; STEROID HYDROXYLASES; SUPPORT, NON-U.S. GOV'T; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0033814332     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(200009)15:5<1017::AID-MDS1043>3.0.CO;2-F     Document Type: Note

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