Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27).
Of the primary dementing disorders that cause frontotemporal dementia, the best-known is Pick disease. We report on a 44-year-old woman with progressive frontal lobe dementia and spastic paraplegia. Examination revealed increased serum levels of cholestanol with abnormal cholesterol metabolism and a heterozygous mutation of the sterol 27-hydroxylase gene (CYP27). Biochemical findings were compatible with cerebrotendinous xanthomatosis (CTX); however, the clinical manifestations were very dissimilar. To our knowledge, a symptomatic carrier of this mutation among CTX patients has not been reported. We speculate that the present patient has a previously undescribed neurodegenerative disease related to abnormal cholesterol metabolism with this heterozygous mutation.
Sugama
S
S
Department of Psychiatry, Amekudai Hospital, Okinawa, Japan.
Kimura
A
A
Chen
W
W
Kubota
S
S
Seyama
Y
Y
Taira
N
N
Eto
Y
Y
D000328:Adult; D001647:Bile Acids and Salts / Q000097:blood / Q000652:urine; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000097:blood; D002777:Cholestanols / Q000097:blood / Q000652:urine; D002784:Cholesterol / Q000097:blood / Q000378:metabolism*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004262:DNA Restriction Enzymes / Q000378:metabolism; D018076:DNA, Complementary / Q000737:chemistry; D003704:Dementia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005625:Frontal Lobe; D006579:Heterozygote; D006801:Humans; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010743:Phospholipids / Q000097:blood; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013250:Steroid Hydroxylases / Q000235:genetics*
D001647:Bile Acids and Salts; D002777:Cholestanols; D018076:DNA, Complementary; D008055:Lipids; D008074:Lipoproteins; D010743:Phospholipids; D004083:Cholestanol; D003577:Cytochrome P-450 Enzyme System; D002784:Cholesterol; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D004262:DNA Restriction Enzymes