A case of Fragile X-associated tremor/ataxia syndrome (FXTAS).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with dysfunction of movement, memory, and the peripheral nervous system. We report an 82 years old male who presented with tremors and difficulty with balance that started at 65 years of age. His motor examination revealed decreased strength in left lower extremity. Tremors were seen in both the upper limbs at rest that worsened with movement. Bilateral lower extremities showed absent vibration and proprioception sensations, absent reflexes and upgoing toes. Electrodiagnostic studies revealed sensory predominant axonal sensory-motor peripheral polyneuropathy. Brain MRI revealed microvascular ischemic changes. The cervical and lumbar MRI showed diffuse degenerative changes. Genetic test for heritable causes of ataxia revealed a premutation in Fragile X gene (84 CGG repeats), confirming the diagnosis of FXTAS. On further genetic testing three out of his four daughters also tested positive for the FMR1 premutation. In appropriate clinical setting, Fragile X-associated tremor/ataxia syndrome (FXTAS) should be considered in every middle aged/elderly patient who presented with slowly progressive ataxia, tremor and peripheral polyneuropathy without any history of cognitive or neurological disabilities in childhood.

Optic coherence tomography findings in relapsing-remitting multiple sclerosis patients of the northwest of Iran.

BACKGROUND: Optical coherence tomography (OCT) is a simple, high-resolution technique to quantify the thickness of retinal nerve fiber layer (RNFL) and macula volume, which provide an indirect measurement of axonal damage in multiple sclerosis (MS). This study aimed to evaluate OCT finding in relapsing-remitting MS patients of the northwest of Iran and compare them with a normal control group. METHODS: In a cross-sectional, descriptive, analytic study, 60 patients with MS as case group and 60 patients as controls were studied. Total macular volume (TMV) and retinal nerve fiber layer (RNFL) in perioptic disk area (3.4 millimeter around the disk) and macula was measured using Stratus 3000 in circular form. These findings were compared between the two groups and their relationship with the duration and severity of MS [based on Expanded Disability Status Scale (EDSS)] and history of optic neuritis were evaluated. RESULTS: In total, 35 men and 85 women with a mean age of 34.8 years were evaluated. The mean RNFL in MS patients were 231.9 and 233.1 micrometers in right and left eyes; while they were 246.7 and 250.4 micrometers in right and left eyes of healthy subjects, respectively. This difference in thickness of RNFL in total measure and all quadrants around the optic disk and TMV between case and control groups was analytically meaningful (P = 0.001 and P = 0.001 for right and left eyes, respectively). The mean thickness of RNFL in patients with optic neuritis was significantly lower than other patients in right and left eyes (P = 0.042 and P = 0.005). There was a significant correlation between most of OCT findings and the MS disease duration and EDSS. CONCLUSION: Findings of the present study in the northwest of Iran buttress the idea that RNFL thickness can be greatly affected by MS. Our results also indicate that this effect is associated with ON and MS duration and severity.

Iran's Bushehr Earthquake at a Glance.

On 9 April 2013, an earthquake of 6.1 magnitude hit southwestern Iran near the city of Khvormuj and the towns of Kaki and Shonbeh in Bushehr province. The official disaster mitigation committee took immediate actions to coordinate rescue teams equipped with 24-hour medical air assistance. Overall, 160 victims were transferred to and treated in the Khvormuj hospital, while 139 survivors were transferred to the hospitals in Bushehr for specialized care. The survivors have been settled in temporary shelters with adequate primary supplies. Considering the hot climate of the area, immediate measures should be taken in order to avoid any further casualties particularly heatstroke, dehydration, diarrheal and vector-borne diseases.

Spinal injuries in the 2012 twin earthquakes, northwest iran.

On 11 August 2012, twin earthquakes measured 6.3 and 6.4 on the Richter scale hit three towns (Ahar, Varzaqan, and Heris) in East Azerbaijan Province, Iran resulting in tragic loss of three hundred lives and leaving thousands of injured. The aim of the present study was to report the spinal injuries during recent earthquake in northwest Iran, its consequences and management. Of the 923 hospitalized patients, 26 (2.8%) had neurosurgical complications. The imaging and clinical data of the patients were retrospectively studied regarding the anatomical location of the injury, the severity of spinal injury and associated neurological deficit. To further analyze the findings, Magerl (AO) and Frankel's classifications were used. The injuries without any fracture were considered as minor spinal injuries. The mean age of the patients was 44.54±22.52 (range: 5-88) years. We detected a total of 38 vertebral injuries including 24 major (63.15%) and 14 minor injuries (36.85%). The most common injuries were observed in the lumbar spine (19 injuries, 50%). The 24 major injuries chiefly included Magerl type A (14 injuries, 58.3%). According to the Frankel's classification, majority of the patients (88.46%) had no neurological deficit. In this study, three patients had nerve injuries. In conclusion, the number and proportion of spinal fractures patients in the recent twin earthquakes, northwest Iran was limited and caused less nerve injuries compared to the previous similar disasters. This might be due to the milder earthquake consequences since the incident happened in the middle of the day when men were working their fields. Potential complications in patients traumatized in earthquake incidents should be monitored for and early assessment of the neurological function is required to prioritize care for the victims.