Neurological Sciences

Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal storage disorder involving the white matter of the peripheral and the central nervous systems. It is caused by a deficiency of galactocerebrosidase enzyme activity. The most common manifestation is the classical early onset KD that leads to patient’s loss before the age of 2. Herein, we report the evaluation of a consanguineous family with three affected children manifesting severe neurological findings that ended with death before the age of 2, in an attempt to provide genetic diagnosis to the family. One of the children underwent detailed physical and neurological examinations, including brain magnetic resonance imaging (MRI) and scalp electroencephalography (EEG) evaluations. GALC genetic testing on this child enabled identification of a novel homozygous variant (NM_000153.3: c.1394C>T; p.(Thr465Ile)), which confirmed diagnosis as KD. Familial segregation of this variant was performed by PCR amplification and Sanger sequencing that revealed the parents as heterozygous carriers. We believe this novel GALC variant will not only help in genetic counseling to this family but will also aid in identification of future KD cases.

Our aim in this research is investigating the hypothesis of biochemical changes in frontal cortex and thalamocortical pathways in juvenile myoclonic epilepsy (JME) and the interaction between the biochemical changes and cortical functions. Magnetic resonance spectroscopy (MRS) was applied to 20 JME patients and 20 controls for measuring N-acetyl aspartate (NAA), N-acetyl aspartate to creatine ratio (NAA/Cr), Glutamine and Glutamate (GLX), Glutamine–Glutamate to creatine (GLX/Cr), Choline containing compounds (Cho) and Choline to creatine (Cho/Cr) levels. Neuropsychological cognitive tests for linguistic and visual attention, linguistic and visual memory, visuospatial and executive functions were applied to all participants. NAA and NAA/Cr concentrations were found lower in bilateral frontal and thalamic regions in JME group as compared with the control group (p < 0.05). There was no difference in frontal and thalamic GLX, GLX/Cr, Cho, Cho/Cr levels in between JME patients and controls (p > 0.05). JME patients were found more unsuccessful than the controls in attention, memory, visuospatial function, verbal fluency, Trail B test and executive functions, stroop test, clock drawing test and Trail A test (p < 0.05). Prefrontal NAA/Cr level was positively related to visual attention, memory, stroop test and thalamic NAA/Cr level was positively related to linguistic memory and Wisconsin card sorting test in JME patients. This research highlights regional brain changes and cognitive decline in JME patients and suggests that MRS may be a sensitive technique for showing subclinical cognitive changes.

Optimum postural control and balance is dependent on the individual, the environment, and the task limitations. Thus, the present study investigated the effect of attentional instruction and feedback type on postural and supra-postural tasks. The 96 participants aged 11–19 years with attention deficit hyperactivity disorder (ADHD) were randomly assigned to one of the eight groups such as attentional instruction (internal and external), feedback (external and internal), and task (postural and supra-postural). Following a pre-test, the participants underwent four training sessions. Each session included 20 trials of 30 s with 20 s of rest between trials. Twenty-four hours after the training session, they performed two trials of warm-up and then took part in a retention test. Twenty-four hours after the retention test, they again performed two trials of warm-up and then participated in the transfer test. The result showed that the external attentional feedback and external attentional instruction groups performed better on supra-postural and postural tasks than the other experimental groups (P > 0.05). The external attentional instruction group performed better on postural and supra-postural tasks in the delayed retention and transfer tests (P > 0.05). Also, the external feedback group scored highest on postural and supra-postural tasks in the delayed retention and transfer tests. The results suggest that external attentional feedback and instruction is more effective than internal attention when learning supra-postural tasks to maintain balance.