Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene

Journal of Alzheimer's Disease : JAD
Katharina StoeckJens Schmidt

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...Continue Reading

References

Jan 12, 2010·Journal of Alzheimer's Disease : JAD·Esther L G E KoedamYolande A L Pijnenburg
Jun 24, 2010·Neuropediatrics·V Gieselmann, I Krägeloh-Mann
Jun 16, 2011·Annals of Neurology·Numthip ChitravasMark L Cohen
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Mar 1, 2014·Journal of Alzheimer's Disease : JAD·Mircea BalasaAlbert Lladó

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Citations

Jun 13, 2019·Orphanet Journal of Rare Diseases·Saskia ElgünSamuel Groeschel
Nov 7, 2019·Orphanet Journal of Rare Diseases·Shanice BeerepootNicole I Wolf
Jan 12, 2019·Journal of Molecular Neuroscience : MN·Miriam KolnikovaJan Chandoga
Nov 17, 2020·Frontiers in Medicine·Alisa A ShaimardanovaAlbert A Rizvanov

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