Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier

Gene. 2013 Nov 1;530(1):155-7. doi: 10.1016/j.gene.2013.07.073. Epub 2013 Aug 18.


Objectives: Progressive dementia is a rare phenotypic feature of female X-ALD carriers. Even rarer is the additional presence of further risk factors for dementia, such as diabetes, hypothyroidism, and hepatopathy. We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease.

Case report: A 79 years-old female with a history of strumectomy, diabetes, hepatopathy, hypothyroidism, arterial hypertension, hiatal hernia, left retinal ablation, ovariectomy, hysterectomy, osteoporosis, bilateral hip endoprosthesis, and neurogenic bladder dysfunction developed slowly progressive cognitive decline since age of 77 years. She had been identified as a female carrier of X-ALD in 12/2010 upon a family screening. At age of 79 years she presented with severe dementia, anxiety, unsteadiness, helplessness, hypertelorism, exaggerated patella tendon reflexes, reduced Achilles tendon reflexes, club feet, contractures of the ankles, the knees, and the hips, and the inability to stay or walk. Cerebral CT showed diffuse atrophy, demyelination periventricularly, small lacunas in the basal ganglia, and small calcifications of the basal ganglia and the temporal lobe on the right side. Differential diagnoses of dementia were considered but were all excluded upon the clinical presentation, blood chemical investigations, imaging studies, and the pattern of neuropsychological deficits.

Conclusions: With progression of the disease manifesting X-ALD carriers may develop progressive severe dementia, severe paraspasticity, and sphincteric dysfunction. Female carriership of X-ALD can be a differential diagnosis of dementia.

Keywords: ABCD1 gene; Adrenoleukodystrophy; Alzheimer's disease; CBD; CNS; CT; Carrier; Genetics; LBD; Lewy-body dementia; MID; MRI; MSA; PSP; SDAT; VLCFA; X-ALD; X-linked; X-linked adrenoleukodystrophy; central nervous system; computed tomography; cortico-basal degeneration; magnetic resonance imaging; mitochondrial disorder; multisystem atrophy; progressive supranuclear palsy; very-long chain fatty acids.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology
  • Aged
  • Dementia / genetics*
  • Dementia / pathology
  • Disease Progression
  • Female
  • Heterozygote
  • Humans
  • Mutation
  • Polymorphism, Single Nucleotide


  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters