Late-onset spinal form xanthomatosis without brain lesion: A case report

BMC Neurology

Volumn 16, Issue 1, 2016, Pages

  Yanagihashi, Masaru ^a   Kano, Osamu ^a   Terashima, Tomoya ^b   Kawase, Yuji ^a   Hanashiro, Sayori ^a   Sawada, Masahiro ^a   Ishikawa, Yuichi ^a   Shiraga, Nobuyuki ^a   Ikeda, Ken ^a   Iwasaki, Yasuo ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

Cerebrotendinous xanthomatosis (CTX); Chenodeoxycholic acid (CDCA); Cholestanol; Cholic acid; Spinal form CTX; Sterol 27 hydroxylase (CYP27A1)

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; GADOLINIUM; CHOLESTANETRIOL 26 MONOOXYGENASE;

ACHILLES TENDON; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BALANCE IMPAIRMENT; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CYP27A1 GENE; DIFFERENTIAL DIAGNOSIS; EVOKED SOMATOSENSORY RESPONSE; GAIT DISORDER; GENE; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JAPANESE (PEOPLE); LATE ONSET DISORDER; LIPID BLOOD LEVEL; MALE; MYELOOPTIC NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESTHESIA; PATELLA LIGAMENT; REFLEX DISORDER; ROMBERG SIGN; SENSORY DYSFUNCTION; SPINAL FORM CEREBROTENDINOUS XANTHOMATOSIS; SPINE DISEASE; TENDON DISEASE; TENDON ENLARGEMENT; TENDON REFLEX; BRAIN; DEMENTIA; EXON; GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PROCEDURES; SPINAL CORD;

AGED; BRAIN; CHOLESTANETRIOL 26-MONOOXYGENASE; DEMENTIA; EXONS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SPINAL CORD; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84957548289     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/s12883-016-0542-2     Document Type: Article

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