A1 Refereed original research article in a scientific journal
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients
Authors: Martikainen MH, Ellfolk U, Majamaa K
Publication year: 2013
Journal: Journal of Neurology
Journal name in source: Journal of neurology
Journal acronym: J.Neurol.
Volume: 260
Issue: 8
First page : 2078
Last page: 2083
Number of pages: 6
ISSN: 0340-5354
DOI: https://doi.org/10.1007/s00415-013-6940-0
Abstract
Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is clinically characterized by progressive pyramidal and cerebellar dysfunction, dorsal column dysfunction and sometimes with axonal neuropathy. Magnetic resonance imaging of brain and the spinal cord reveals characteristic findings. LBSL is caused by mutations in the DARS2 gene that encodes the mitochondrial aspartyl-tRNA synthetase. The presentation and clinical course of LBSL is not uniform, and there is lack of longitudinal data on these patients. In addition, the existing data on the prevalence and characteristics of cognitive abnormalities in patients with LBSL are scarce and somewhat conflicting. Here we report long-term data of neurological and cognitive functioning in three non-related adult patients with LBSL. Cognitive impairment seems to be common among patients with LBSL and DARS2 mutations. The cognitive profile in LBSL shares similarities with that reported in multiple sclerosis, as information-processing speed and working memory are especially affected. In addition, our results and the previously reported carrier frequencies of common pathogenic DARS2 mutations suggest that LBSL may be underdiagnosed in the population.
Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is clinically characterized by progressive pyramidal and cerebellar dysfunction, dorsal column dysfunction and sometimes with axonal neuropathy. Magnetic resonance imaging of brain and the spinal cord reveals characteristic findings. LBSL is caused by mutations in the DARS2 gene that encodes the mitochondrial aspartyl-tRNA synthetase. The presentation and clinical course of LBSL is not uniform, and there is lack of longitudinal data on these patients. In addition, the existing data on the prevalence and characteristics of cognitive abnormalities in patients with LBSL are scarce and somewhat conflicting. Here we report long-term data of neurological and cognitive functioning in three non-related adult patients with LBSL. Cognitive impairment seems to be common among patients with LBSL and DARS2 mutations. The cognitive profile in LBSL shares similarities with that reported in multiple sclerosis, as information-processing speed and working memory are especially affected. In addition, our results and the previously reported carrier frequencies of common pathogenic DARS2 mutations suggest that LBSL may be underdiagnosed in the population.
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