Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy

Neuropathology and Applied Neurobiology

Volumn 40, Issue 3, 2014, Pages 345-350

  Kapas I ^a,b   Katko M ^c   Harangi, M ^c   Paragh, G ^c   Balogh, I ^d   Koczi Z ^b   Regelsberger, G ^e   Molnar M J ^a   Kovacs, G G ^a,e  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b Dept Pathol   (Hungary)

^c UNIVERSITY OF DEBRECEN   (Hungary)

^d UNIVERSITY OF DEBRECEN   (Hungary)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTEROL; MYELIN;

ADULT; ASTROCYTOSIS; CASE REPORT; CD8+ T LYMPHOCYTE; CEREBELLUM CORTEX; CEREBRAL PEDUNCLE; CEREBROTENDINOUS XANTHOMATOSIS; DENTATE NUCLEUS; DNA SEQUENCE; EXON; GENE MUTATION; GENETIC ASSOCIATION; GIANT CELL; GLIOSIS; GLOBUS PALLIDUS; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INFERIOR OLIVE; LETTER; LOCUS CERULEUS; MACROPHAGE; MALE; MIDDLE AGED; NERVE FIBER; NEUROFIBRILLARY TANGLE; PONTINE NUCLEUS; PREMATURE AGE ASSOCIATED LIMBIC TAUOPATHY; PRIORITY JOURNAL; SENILE PLAQUE; TAUOPATHY; WHITE MATTER; WHITE MATTER LESION; XANTHOMATOSIS;

ADULT; AGE FACTORS; CHOLESTANETRIOL 26-MONOOXYGENASE; HUMANS; LIMBIC SYSTEM; MALE; MIDDLE AGED; MUTATION; TAUOPATHIES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84883457968     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12058     Document Type: Letter

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