Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis

Clinical Neuropathology

Volumn 29, Issue 6, 2010, Pages 361-364

  Wallon, D ^a   Guyant Marechal L ^a   Laquerriere A ^a   Wevers, R A ^b   Martinaud, O ^a   Kluijtmans, L A J ^b   Yntema, H G ^b   Saugier Veber, P ^a   Hannequin, D ^a  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cerebellar hypoperfusion; Cerebrotendinous xanthomatosis; Early onset dementia; Neuropathology

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; CYSTEINE ETHYL ESTER TC 99M; STEROL 27 HYDROXYLASE;

ACHILLES TENDON; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR MODIFICATION; BIOACCUMULATION; CASE REPORT; CEREBRAL PEDUNCLE; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL EXAMINATION; COGNITIVE DEFECT; CYP27A1 GENE; EXON; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIPIDOSIS; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRAMIDAL TRACT; SEQUENCE ANALYSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPASTIC PARAPLEGIA;

EID: 78549296469     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp29361     Document Type: Article

References (9)

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