Abstract
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.
MeSH terms
-
Adult
-
Bile Acids and Salts / blood
-
Bile Acids and Salts / urine
-
Cholestanetriol 26-Monooxygenase
-
Cholestanol / blood
-
Cholestanols / blood
-
Cholestanols / urine
-
Cholesterol / blood
-
Cholesterol / metabolism*
-
Cytochrome P-450 Enzyme System / genetics*
-
DNA Restriction Enzymes / metabolism
-
DNA, Complementary / chemistry
-
Dementia / diagnosis
-
Dementia / enzymology
-
Dementia / genetics*
-
Female
-
Frontal Lobe*
-
Heterozygote
-
Humans
-
Lipids / blood
-
Lipoproteins / blood
-
Magnetic Resonance Imaging
-
Mutation*
-
Phospholipids / blood
-
Reverse Transcriptase Polymerase Chain Reaction
-
Sequence Analysis, DNA
-
Steroid Hydroxylases / genetics*
Substances
-
Bile Acids and Salts
-
Cholestanols
-
DNA, Complementary
-
Lipids
-
Lipoproteins
-
Phospholipids
-
Cholestanol
-
Cytochrome P-450 Enzyme System
-
Cholesterol
-
Steroid Hydroxylases
-
CYP27A1 protein, human
-
Cholestanetriol 26-Monooxygenase
-
DNA Restriction Enzymes