Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

Background: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward. Methods: The DNAs of referred ARHSP and JALS patients were exome sequenced. Clinical data of patients with SPG11 mutations were gathered by interviews and neurological examinations including electrodiagnosis (EDX) and magnetic resonance imaging (MRI). Results: Eight probands with SPG11 mutations were identified. Two mutations are novel. Among seven Iranian probands, six carried the p.Glu1026Argfs*4-causing mutation. All eight patients had features known to be present in both ARHSP and JALS. Additionally and surprisingly, presence of both thin corpus callosum (TCC) on MRI and motor neuronopathy were also observed in seven patients. These presentations are, respectively, key suggestive features of ARHSP and JALS. Conclusion: We suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients with SPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitate SPG11 screenings in Iranian patients. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LL

Reduced retinal nerve fiber layer (RNFL) thickness in ALS patients: a window to disease progression

Objectives: To assess RNFL thickness in ALS patients and compare it to healthy controls, and to detect possible correlations between RNFL thickness in ALS patients and disease severity and duration. Methods: Study population consisted of ALS patients and age- and sex-matched controls. We used the revised ALS functional rating scale (ALSFRS-R) as a measure of disease severity. RNFL thickness in the four quadrants were measured with a spectral domain OCT (Topcon 3D, 2015). Results: We evaluated 20 ALS patients (40 eyes) and 25 healthy matched controls. Average RNFL thickness in ALS patients was significantly reduced compared to controls (102.57 ± 13.46 compared to 97.11 ± 10.76, p 0.04). There was a significant positive correlation between the functional abilities of the patients based on the ALSFRS-R and average RNFL thickness and also RNFL thickness in most quadrants. A linear regression analysis proved that this correlation was independent of age. In ALS patients, RNFL thickness in the nasal quadrant of the left eyes was significantly reduced compared to the corresponding quadrant in the right eyes even after adjustment for multiplicity (85.80 ± 23.20 compared to 96.80 ± 16.96, p = 0.008). Conclusion: RNFL thickness in ALS patients is reduced compared to healthy controls. OCT probably could serve as a marker of neurodegeneration and progression of the disease in ALS patients. RNFL thickness is different among the right and left eyes of ALS patients pointing to the fact that asymmetric CNS involvement in ALS is not confined to the motor system. © 2018, Springer-Verlag GmbH Germany, part of Springer Nature

Coexistence of deep brain stimulators and cardiac implantable electronic devices: A systematic review of safety

As the number of patients implanted with deep brain stimulation systems increases, coexistence with cardiac implantable electronic devices (CIEDs) poses questions about safety. We systematically reviewed the literature on coexisting DBS and CIED. Eighteen reports of 34 patients were included. Device-device interactions were reported in 6 patients. Sources of complications were extensively reviewed and cautious measures which could be considered as part of a standard checklist for careful consideration are suggested. © 2021 Elsevier Lt

Coexistence of deep brain stimulators and cardiac implantable electronic devices: A systematic review of safety

As the number of patients implanted with deep brain stimulation systems increases, coexistence with cardiac implantable electronic devices (CIEDs) poses questions about safety. We systematically reviewed the literature on coexisting DBS and CIED. Eighteen reports of 34 patients were included. Device-device interactions were reported in 6 patients. Sources of complications were extensively reviewed and cautious measures which could be considered as part of a standard checklist for careful consideration are suggested.Neurological Motor Disorder

Increased serum brain-derived neurotrophic factor in multiple sclerosis patients on interferon-b and its impact on functional abilities

Objectives: To investigate the potential role of disease-modifying therapies (DMTs) used to treat multiple sclerosis on inducing brainderived neurotrophic factor (BDNF) production. Methods: A total of 82 patients entered the study. Sixty (73) patients were on DMTs (15 on Avonex, 13 on Rebif, 27 on Betaferon, 3 on Mitoxantrone, and 2 on IVIg), whereas 22 received no DMTs. The degree of neurological impairment was recorded using the expanded disability status scale (EDSS). Serum BDNF levels were assessed using the Sandwich ELISA method. We compared mean serum BDNF levels among patient groups based on whether or not they were on DMTs, and the specific agent used. Then, the relationship between BDNF levels and EDSS scores was assessed. The receiver operating characteristic (ROC) curve was used to calculate a cutoff value by which serum BDNF could predict the degree of disability. Results: The study sample had a mean age of 34.6 years, mean EDSS score of 3.8, and mean BDNF level of 198.9 pg/mL. Patients on interferon-b 1b therapy had significantly higher levels of BDNF compared with patients on Mitoxantrone or patients not on DMTs (237.6, 68.6, and 155.9, respectively; P = 0.003). The degree of neurological impairment correlated negatively with BDNF levels

Carotid duplex ultrasound and transcranial Doppler findings in commercial divers and pilots

The risky working environments of divers and pilots, and the possible role of extreme ambient pressure in carotid stenosis, make ischemic stroke an important occupational concern among these professionals. In this study, we aimed to evaluate the association of being exposed to hyperbaric or hypobaric conditions with carotid artery stenosis by comparing common carotid intima-media thickness (CCIMT) and blood flow velocities of cerebral arteries in divers and pilots using carotid duplex ultrasound (CDUS) and transcranial Doppler (TCD). CDUS and transtemporal TCD were performed in 29 divers, 36 pilots and 30 control participants. Medical history, blood pressure, lipid profile and blood sugar were recorded to control the previously well-known risk factors of atherosclerosis. Findings of the CDUS and TCD including: CCIMT and blood flow velocities of internal carotid artery (ICA), common carotid artery (CCA), and middle cerebral artery (MCA) of divers and pilots were compared with those of the control group using regression analysis models. Both right and left side CCIMT were significantly higher in divers (P < 0.05) and pilots (P < 0.05) in comparison with the control group. Carotid index peak systolic velocity (PSV) of ICA/PSV of CCA) of divers and pilots were also higher than the control group. TCD findings were not significantly different between divers, pilots, and the control group. Increased CCIMT and carotid index in diver and pilot groups appear to be suggestive of accelerated atherosclerosis of carotid artery in these occupational groups. © 2016, Springer-Verlag Italia