Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene

Journal of the Neurological Sciences

Volumn 263, Issue 1-2, 2007, Pages 149-153

  Šutovský, Stanislav ^a   Petrovič, Robert ^b   Chandoga, Jan ^b   Turčáni, Peter ^a  

^a Physics and Informatics   (Slovakia)

^b UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

Author keywords

L160P mutation in ABCD1 gene; X linked adrenoleukodystrophy

Indexed keywords

AMINO ACID;

ABCD1 GENE; ADRENOLEUKODYSTROPHY; ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BEHAVIOR CHANGE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CODON; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC IMAGING; EXON; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENERAL CONDITION DETERIORATION; GENETIC ANALYSIS; HUMAN; IMAGE ANALYSIS; MALE; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; NEUROLOGIC EXAMINATION; PREDICTION; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADRENOLEUKODYSTROPHY; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; DEMENTIA; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; HUMANS; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PROLINE;

EID: 35649000453     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.01.082     Document Type: Article

References (9)

1. Moser H.W. X-linked adrenoleukodystrophy. In: Scriver C.R., and Beaudet A.L. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 3257-3301
2. Moser H.W. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120 Pt 8 (1997) 1485-1508
3. Mosser J., Douar A.-M., Sarde C.-O., Kioschis P., Feil R., Moser H., et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361 (1993) 726-730
4. Beutler B., and Cerami A. The history, properties, and biological effects of cachectin. Biochemistry 27 (1988) 7575-7582 [Review]
5. Lepage G., and Roy C.C. Direct transesterification of all classes of lipids in a one-step reaction. J Lipid Res 27 (1986) 114-120
6. Larner A.J. Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene. J Neurol 250 (2003) 1253-1254
7. Mukherjee S., Newby E., and Harvey J.N. Adrenomyeloneuropathy in patients with "Addison's disease": genetic case analysis. J R Soc Med 99 (2006) 245-249
8. Luda E., and Barisone M.G. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci 22 (2001) 21-25
9. Dziewas R., Stogbauer F., Oelerich M., Ritter M., and Husstedt I.W. A case of adrenomyeloneuropathy with unusual lesion pattern in magnetic resonance imaging. J Neurol 248 4 (2001) 341-342