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Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27‐hydroxylase gene ( CYP27 )
Author(s) -
Sugama S.,
Kimura A.,
Chen W.,
Kubota S.,
Seyama Y.,
Taira N.,
Eto Y.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1010564920930
Subject(s) - cerebrotendinous xanthomatosis , cholestanol , dementia , cyp27a1 , frontotemporal dementia , mutation , endocrinology , medicine , inborn error of metabolism , sterol , degenerative disease , biology , genetics , cholesterol , disease , gene
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.