TY - JOUR
T1 - A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction
T2 - A novel point mutation in the ABCD1 gene
AU - Inoue, Shinichiro
AU - Terada, Seishi
AU - Matsumoto, Tadashi
AU - Ujike, Hiroshi
AU - Uchitomi, Yosuke
PY - 2012
Y1 - 2012
N2 - We report the case of a 48-year-old man with adult-onset adrenoleukodystrophy (ALD) who developed dementia with subacute onset. He was abulic, indifferent to his surroundings, and without insight with regards to his own disease. An elevated plasma very long chain fatty acid level and a novel point mutation IVS3+2t> g in the ABCD1 gene confirmed the diagnosis of ALD. Diffusion-weighted MRI revealed a high intensity area in the white matter of the frontal lobes. Severe brain hypoperfusion in the frontal lobes was revealed. We believe that this is a rare case of adult-onset adrenoleukodystrophy with predominant frontal lobe dysfunction.
AB - We report the case of a 48-year-old man with adult-onset adrenoleukodystrophy (ALD) who developed dementia with subacute onset. He was abulic, indifferent to his surroundings, and without insight with regards to his own disease. An elevated plasma very long chain fatty acid level and a novel point mutation IVS3+2t> g in the ABCD1 gene confirmed the diagnosis of ALD. Diffusion-weighted MRI revealed a high intensity area in the white matter of the frontal lobes. Severe brain hypoperfusion in the frontal lobes was revealed. We believe that this is a rare case of adult-onset adrenoleukodystrophy with predominant frontal lobe dysfunction.
KW - Adrenoleukodystrophy
KW - Diffusion-weighted MRI
KW - Frontal lobe dysfunction
KW - MR spectroscopy
KW - Single photon emission CT (SPECT)
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U2 - 10.2169/internalmedicine.51.6899
DO - 10.2169/internalmedicine.51.6899
M3 - Article
C2 - 22687851
AN - SCOPUS:84863110617
SN - 0918-2918
VL - 51
SP - 1403
EP - 1406
JO - Internal Medicine
JF - Internal Medicine
IS - 11
ER -