Premium
Adult‐type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia
Author(s) -
Fukutani Yuken,
Noriki Yoko,
Sasaki Kazuo,
Isaki Kiminori,
Kuriyama Masaru,
Kurosawa Kenji,
Ida Hiroyuki
Publication year - 1999
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1046/j.1440-1819.1999.00569.x
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , compound heterozygosity , dementia , cerebrotendinous xanthomatosis , psychology , leukodystrophy , white matter , schizophrenia (object oriented programming) , magnetic resonance imaging , medicine , audiology , pathology , neuroscience , psychiatry , mutation , genetics , radiology , biology , disease , cholesterol , gene
A 26‐year‐old Japanese woman slowly developed a change of character such as hypospontaneity and blunted affect, followed by obvious mental deterioration. She was diagnosed as having a disorganized type of schizophrenia at the first examination. Brain magnetic resonance imaging demonstrated diffuse high intensity in the cerebral white matter, particularly in the frontal lobes. The single photon emission computed tomography images using 123 I‐IMP disclosed diffuse cerebral hypofusion, especially in the frontal lobes. Electroencephalogram showed a moderate amount of 5–6 Hz θ waves on the background of α activity. Nerve conduction velocities in the extremities were delayed. The level of leucocyte arylsulphatase was low. In the arylsulphatase A gene analysis, a compound heterozygote having the 99 Gly→Asp and 409 Thr→Ile mutations was confirmed. The patient was diagnosed as having metachromatic leukodystrophy. She gradually showed obvious dementing symptoms such as memory disturbance and disorientation. The characteristics of the psychiatric symptoms in the leukodystrophy are discussed.