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İŞAK, BARIŞ

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    Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings
    (ELSEVIER SCIENCE BV, 2008) İŞAK, BARIŞ; Uluc, Kayihan; Baskan, Ozdil; Yildirim, Kadriye Agan; Ozsahin, Selda; Koseoglu, Mesrure; Isak, Baris; Scheper, G. C.; Gunal, Dilek Ince; van der Knaap, M. S.
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with autosomal recessive mode of inheritance. Lately, mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, have been found as the underlying defect. We report a 19-year-old male patient with cerebellar, pyramidal and dorsal column dysfunctions and specific magnetic resonance imaging (MRI) and characteristic magnetic resonance spectroscopy (MRS) abnormalities. The patient was compound-heterozygous for two mutations in DARS2. MRI showed selective involvement of cerebral and cerebellar white matter and superior and inferior cerebellar peduncles, without contrast enhancement. The U-fibers were spared. The sensory and the pyramidal tracts were affected over their entire length. Involvement of the intraparenchymal trajectories of the trigeminal nerves and mesencephalic trigeminal tracts was demonstrated. In the spinal cord, signal abnormalities were identified in the dorsal columns and the lateral corticospinal tracts. Proton-MRS of the frontal and cerebellar white matter showed elevated lactate, reduced N-acetylaspartate, increased myoinositol and mildly elevated choline. In LBSL, distinct MRI findings should lead to the diagnosis, which can be confirmed by the analysis of the disease gene DARS2. (c) 2008 Elsevier B.V. All rights reserved.
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    Evaluation of peripheral and autonomic neuropathy among patients with newly diagnosed impaired glucose tolerance
    (WILEY, 2008) İŞAK, BARIŞ; Isak, Baris; Oflazoglu, Buket; Tanridag, Tulin; Yitmen, Irem; Us, Onder
    Background We have aimed to investigate the presence of peripheral and autonomic neuropathy in individuals who had been diagnosed with impaired glucose tolerance (IGT) on the basis of an oral glucose tolerance test, by comparing with age-matched healthy subjects with an oral glucose tolerance test (OGTT) in normoglycernic ranges. Material and methods Conventional nerve conduction studies, heart rate variation variability, heart rate response to deep breathing, heart rate response blood pressure response to standing up quickly, hand to valsalva maneuvre, grip test and sympathetic skin response tests were used to evaluate the IGT and the control subjects. Results No obvious statistical difference indicating peripheral neuropathy and/or cardiac autonomic neuropathy was detected between patient group and controls. Amplitudes of sympathetic skin response of two limbs (right upper and lower extremities) were lower in the IGT patient group when compared to healthy controls (p < 0.05) indicating the presence of sudomotor autonomic neuropathy. Conclusion Complaints and neurological examinations of patients with IGT were thought to be consistent with small-fiber neuropathy in the early phase of glucose intolerance. Not detecting any neuropathic findings in conventional electroneurography should be attributed to insufficient time allowed for settling down of large-fiber neuropathy. Obtaining no response in some of the patients in addition to general decrease in the amplitudes of sympathetic skin responses indicates that sudomotor fibers tend to be affected earlier in autonomic neuropathy in the group with IGT when compared with healthy controls. Newly diagnosed IGT patients take receive priority in primary protection since the time for settling down of cardiac autonomic neuropathy was short. Copyright (c) 2008 John Wiley & Sons, Ltd.