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

Authors
  • Sutovský, Stanislav
  • Petrovic, Robert
  • Chandoga, Jan
  • Turcáni, Peter
Type
Published Article
Journal
Journal of the Neurological Sciences
Publisher
Elsevier
Publication Date
Dec 15, 2007
Volume
263
Issue
1-2
Pages
149–153
Identifiers
PMID: 17662307
Source
Medline
License
Unknown

Abstract

We examined a patient with progressive development of early onset frontal lobe type dementia and upper motor neuron signs in which neuroimaging methods and biochemical tests refer to adrenoleukodystrophy. Genetic tests revealed a new mutation at position L160P in ALD protein.

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