Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene
2016 | journal article. A publication with affiliation to the University of Göttingen.
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Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene
Stoeck, K.; Psychogios, M. N. ; Ohlenbusch, A. ; Steinfeld, R. & Schmidt, J. (2016)
Journal of Alzheimer's Disease, 51(3) pp. 683-687. DOI: https://doi.org/10.3233/JAD-150819
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Details
- Authors
- Stoeck, Katharina; Psychogios, Marios Nikos ; Ohlenbusch, Andreas ; Steinfeld, Robert ; Schmidt, Jens
- Abstract
- A 48-year-old male patient presented with personality changes and progressive memory loss over 2 years with initially suspected Hashimoto's encephalopathy. Strategy of diagnostic workup of early onset dementia included dementia from neurodegenerative, neuroinflammatory, metabolic/toxic, and psychiatric origin. The patient's neurological exam was normal. MRI revealed a leukencephalopathy, predominantly in the frontal periventricular white matter, without notable changes over 2 years. On neurophysiological examination, prolonged central conduction times and a sensorimotor polyneuropathy were noted. Neuropsychological impairment included disorientation in place and a reduced short time memory. Behavioral alterations were predominated by sudden mood changes and disinhibition. Cerebrospinal fluid was normal. Despite presence of thyroid autoantibodies, glucocorticosteroid treatment did not improve the dementia. A metachromatic leukodystrophy was diagnosed by decreased arylsulfatase-A activity in leucocytes/fibroblasts and identification of a compound heterozygous mutation in the ARSA gene: c. 542T>G (exon 3) and the novel mutation c. 1013T>C (exon 6). Pathogenic function was suggested by bioinformatic mutation search. In a patient with early onset dementia, strategic diagnostic workup including genetic assessment revealed an adult-onset metachromatic leukodystrophy with a novel mutation in the arylsulfatase A gene.
- Issue Date
- 2016
- Status
- published
- Publisher
- Ios Press
- Journal
- Journal of Alzheimer's Disease
- ISSN
- 1387-2877
- eISSN
- 1875-8908
- ISSN
- 1875-8908; 1387-2877