A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: A novel point mutation in the ABCD1 gene

Internal Medicine

Volumn 51, Issue 11, 2012, Pages 1403-1406

  Inoue, Shinichiro ^a   Terada, Seishi ^a   Matsumoto, Tadashi ^b   Ujike, Hiroshi ^a   Uchitomi, Yosuke ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Adrenoleukodystrophy; Diffusion weighted MRI; Frontal lobe dysfunction; MR spectroscopy; Single photon emission CT (SPECT)

Indexed keywords

CHOLINE; CORTICOTROPIN; CREATININE; CYSTEINE ETHYL ESTER TC 99M; MYELIN BASIC PROTEIN; N ACETYLASPARTIC ACID; VERY LONG CHAIN FATTY ACID;

ABCD1 GENE; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; BRAIN ATROPHY; BRAIN DYSFUNCTION; BRAIN PERFUSION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; DEMENTIA; FRONTAL LOBE; GAIT DISORDER; GENE; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PERSONALITY DISORDER; POINT MUTATION; POLYMERASE CHAIN REACTION; RECALL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPEECH DISORDER; TENDON REFLEX; WHITE MATTER INJURY;

ADRENOLEUKODYSTROPHY; AGE OF ONSET; ATP-BINDING CASSETTE TRANSPORTERS; DEMENTIA; FATTY ACIDS; FRONTAL LOBE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; POINT MUTATION;

EID: 84863110617     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.51.6899     Document Type: Article

References (24)

1. Bezman L, Moser AB, Raymond GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49: 512-517, 2001.
2. Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol 3: 140-151, 2007.
3. Takemoto Y, Suzuki Y, Tamakoshi A, et al. Epidemiology of X-linked adrenoleukodystrophy in Japan. J Hum Genet 47: 590-593, 2002.
4. Ferrer I, Aubourg P, Pujol A. General aspects and neuropathology of X-linked adrenoleukodystrophy. Brain Pathol 20: 817-830, 2010.
5. Berger J, Gärtner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 1763: 1721-1732, 2006.
6. Moser HW. Adrenoleukodystrophy: phenotype, genetics, patho-genesis and therapy. Brain 120: 1485-1508, 1997.
7. Larner AJ. Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene. J Neurol 250: 1253-1254, 2003.
8. Sutovský S, Petrovic R, Chandoga J, Turcáni P. Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. J Neurol Sci 263: 149-153, 2007.
9. Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology 56: 544-547, 2001.
10. Hosokawa T, Yamada Y, Isagoda A, Nakamura R. Psychometric equivalence of the Hasegawa Dementia Scale-Revised with the Mini-Mental State Examination in stroke patients. Percept Mot Skills 79: 664-666, 1994.
11. Kemp S, Wanders R. Biochemical aspects of X-linked adreno-leukodystrophy. Brain Pathol 20: 831-837, 2010.
12. Suzuki Y, Takemoto Y, Shimozawa N, et al. Natural history of X-linked adrenoleukodystrophy in Japan. Brain Dev 27: 353-357, 2005.
13. Kitchin W, Cohen-Cole SA, Mickel SF. Adrenoleukodystrophy: frequency of presentation as a psychiatric disorder. Biol Psychiatry 22: 1375-1387, 1987.
14. Gothelf D, Levite R, Gadoth N. Bipolar affective disorder heralding cerebral demyelination in adreno-myelo-leukodystrophy. Brain Dev 22: 184-187, 2000.
15. Luda E, Barisone MG. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci 22: 21-25, 2001.
16. Miller WP, Rothman SM, Nascene D, et al. Outcomes after allo-geneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood 118: 1971-1978, 2011.
17. Kumar AJ, Kohler W, Kruse B, et al. MR findings in adult-onset adrenoleukodystrophy. Am J Neuroradiol 16: 1227-1237, 1995.
18. Loes DJ, Fatemi A, Melhem ER, et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 61: 369-374, 2003.
19. Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP Jr. Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32: 577-591, 1975.
20. Sener RN. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy. Magn Reson Imaging 20: 215-219, 2002.
21. Oz G, Tkác I, Charnas LR, et al. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology 64: 434-441, 2005.
22. Eichler FS, Itoh R, Barker PB, et al. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology 225: 245-252, 2002.
23. Al Suhaili AR, Hertecant J, Sztriha L. Adrenoleukodystrophy: cortical hypoperfusion demonstrated with 99mTc-HMPAO SPECT. J Child Neurol 9: 284-286, 1994.
24. Matsuda H, Uesugi H, Kamata K, et al. Regional cerebral blood flow measurement using Tc-99m HMPAO SPECT in a patient with adrenoleukodystrophy. Clin Nucl Med 20: 52-54, 1995.