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Contribution of major amyotrophic lateral sclerosis related genes to the etiology of the disease in Chinese
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Abstracts / Journal of the Neurological Sciences 333 (2013) e579–e628
Abstract — WCN 2013 No: 409 Topic: 36 — Other Topic Contribution of major amyotrophic lateral sclerosis related genes to the etiology of the disease in Chinese Z.-Y. Zou, X.-G. Li, M.-S. Liu, L.-Y. Cui. Peking Union Medical College Hospital, Beijing, China Background: Mutations in SOD1, ANG, TARDBP, FUS, VCP, C9ORF72, and PFN1 genes have been identified in ALS patients. Objective: The objective of this work is to determine the mutations in major ALS-related genes in a large cohort of Chinese familial (FALS) and sporadic (SALS) patients and the genotype–phenotype associations. Methods: Screening for mutations of SOD1, ANG, TARDBP, FUS, VCP, C9ORF72, and PFN1 genes was consecutively carried out in 20 index FALS patients, 324 SALS patients, and 245 healthy controls. Results: Overall, mutations were detected in 35.0% (7/20, 95%CI = 14.1–55.9%) and 4.0% (13/324, 95%CI = 1.9–6.1%) of FALS and SALS patients, respectively. SOD1 (5/20, 25.0%) and FUS (2/20, 10.0%) account for all mutations in FALS patients, whereas FUS (6/324, 1.9%) was the most frequently mutated gene in SALS patients, followed by SOD1 (3/324, 0.9%), TARDBP (3/324, 0.9%), and ANG (1/324, 0.3%). No mutations were detected in VCP, C9orf72, and PFN1 gene. Patients with FUS mutations were younger at onset (P b 0.01) and had shorter lifespan (P b 0.01), compared with those without the mutations. Conclusion: Mutations in major ALS-related genes were present in approximately 35% and 4% of Chinese FALS and SALS patients, respectively. SOD1 and FUS are the most frequently mutated genes both in FALS and SALS patients in Chinese. It appears to be different from the profiles reported in Caucasian ALS patients, in which C9orf72 and SOD1 are the most common mutated genes. Moreover, FUS mutations are associated with an early onset and poor prognosis. The results suggest that there is an ethnic difference in the genetic background of ALS. doi:10.1016/j.jns.2013.07.2079
Abstract — WCN 2013 No: 400 Topic: 36 — Other Topic Hashimoto's encephalopathy associated with an elevated intrathecal IGG4 level Y. Hosoia, S. Konoa, T. Teradab, T. Konishia, H. Miyajimaa. aFirst Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan; bLaboratory of Human Brain Imaging Research, Molecular Imaging Frontier Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan Background: Hashimoto's encephalopathy is a steroid-responsive neurological syndrome associated with the existence of anti-thyroid antibodies, which is characterized by various neuropsychiatric symptoms. The autoimmune mechanisms are thought to play a pathogenic role in this disorder. Recently, some reports showed an elevated serum IgG4 level in patients with Hashimoto's thyroiditis. Objective: The pathogenic role of IgG4 in a patient with Hashimoto's encephalopathy is investigated. Patient and method: The patient was a 60-year-old Japanese male who presented with a 6-month history of progressive gait disturbance. He developed memory disturbance and involuntary movements of his face and neck 2 months after presentation. The IgG4 concentrations in the serum and cerebrospinal fluid, MRI scans of brain, and response of corticosteroid therapy were investigated. Results: A neurological examination revealed cerebellar ataxia and grimacing face with cervical dystonia. The MMSE score and FAB score were within normal range. Laboratory tests revealed a high titer of
anti-thyroglobulin antibodies in the serum. The serum IgG4 concentration was elevated (298 mg/dl; normal: 4.8–105). A CSF analysis revealed an elevated level of IgG4 (3.5 mg/dl; normal: not detected). There was no clinical finding suggesting complications of IgG4related disease. A brain MRI revealed symmetrical periventricular high signal intensity on T2-weighted images and FLAIR images. Corticosteroid therapy improved the neurological symptoms, intrathecal IgG4 level, and abnormal MRI findings. Conclusion: An elevated IgG4 level in the cerebrospinal fluid, as well as in the serum, may provide helpful clues about the possible autoimmune mechanism involved in Hashimoto's encephalopathy. doi:10.1016/j.jns.2013.07.2080
Abstract — WCN 2013 No: 404 Topic: 36 — Other Topic BMI impact on neurological diseases J. Xhaxhoa, I. Alimehmetib, S. Xhaxhoc, J. Krujaa, D. Dobic. aDepartment of Neurology, Tirana, Albania; bDepartment of Endocrinology, Tirana, Albania; cCUHT Albania, Tirana, Albania Introduction: In neurological practice there were more patients with obesity-related diseases such as follows: stroke, headache, tunnel carpal syndrome, intracranial hypertension, etc. Aim: The aim of this study is to investigate the impact of BMI in some neurological diseases. Methods: We included in this study 263 persons. 154 of them were hospitalized in the Clinic of Neurology, in University Hospital Centre “Mother Teresa”, Tirana and 109 were control group (They are random persons with the same age-group with the admitted persons). For all of them we fulfilled a form with general data and specific data on risk factors for several neurological diseases. We classified them in 4 groups. For every person we calculate the BMI. We compared BMI of control group with BMI of persons with neurological diseases. Results: We found that the BMI was 1 kg/m2 greater in stroke patients compared with control group and that there was a difference of 0.6 kg/m2 in patients with other neurological diagnosis compared with control group (z b 0.01). BMI was 0.5 kg/m2 greater in control group with arterial hypertension compared with patients with arterial hypertension with neurological diseases. BMI was 1.25 kg/m2 greater in control group with mellitus diabetes compared with patients with mellitus diabetes with neurological diseases. BMI was 2 kg/m2 greater in smoker patients with neurologic diseases compared with control group. BMI was 2 kg/m2 greater in alcoholic persons with neurologic disease than control group. Conclusion: Obesity is a significant risk factor for neurological diseases. doi:10.1016/j.jns.2013.07.2081
Abstract — WCN 2013 No: 374 Topic: 36 — Other Topic Neurological diseases in pregnancy D. Ndoja, A. Kuqo, J. Naska, A. Rroji, L. Stefanidhi, L. Buda, J. Kruja. Department of Neurology, UHC Mother Theresa, Service of Neurology and Radiology, Tirana, Albania Objective and materials: Eleven pregnant women aged 28.72 years old (DS +/− 7.18; mean age: 16–37 years) admitted in our
Abstracts / Journal of the Neurological Sciences 333 (2013) e579–e628
Abstract — WCN 2013 No: 409 Topic: 36 — Other Topic Contribution of major amyotrophic lateral sclerosis related genes to the etiology of the disease in Chinese Z.-Y. Zou, X.-G. Li, M.-S. Liu, L.-Y. Cui. Peking Union Medical College Hospital, Beijing, China Background: Mutations in SOD1, ANG, TARDBP, FUS, VCP, C9ORF72, and PFN1 genes have been identified in ALS patients. Objective: The objective of this work is to determine the mutations in major ALS-related genes in a large cohort of Chinese familial (FALS) and sporadic (SALS) patients and the genotype–phenotype associations. Methods: Screening for mutations of SOD1, ANG, TARDBP, FUS, VCP, C9ORF72, and PFN1 genes was consecutively carried out in 20 index FALS patients, 324 SALS patients, and 245 healthy controls. Results: Overall, mutations were detected in 35.0% (7/20, 95%CI = 14.1–55.9%) and 4.0% (13/324, 95%CI = 1.9–6.1%) of FALS and SALS patients, respectively. SOD1 (5/20, 25.0%) and FUS (2/20, 10.0%) account for all mutations in FALS patients, whereas FUS (6/324, 1.9%) was the most frequently mutated gene in SALS patients, followed by SOD1 (3/324, 0.9%), TARDBP (3/324, 0.9%), and ANG (1/324, 0.3%). No mutations were detected in VCP, C9orf72, and PFN1 gene. Patients with FUS mutations were younger at onset (P b 0.01) and had shorter lifespan (P b 0.01), compared with those without the mutations. Conclusion: Mutations in major ALS-related genes were present in approximately 35% and 4% of Chinese FALS and SALS patients, respectively. SOD1 and FUS are the most frequently mutated genes both in FALS and SALS patients in Chinese. It appears to be different from the profiles reported in Caucasian ALS patients, in which C9orf72 and SOD1 are the most common mutated genes. Moreover, FUS mutations are associated with an early onset and poor prognosis. The results suggest that there is an ethnic difference in the genetic background of ALS. doi:10.1016/j.jns.2013.07.2079
Abstract — WCN 2013 No: 400 Topic: 36 — Other Topic Hashimoto's encephalopathy associated with an elevated intrathecal IGG4 level Y. Hosoia, S. Konoa, T. Teradab, T. Konishia, H. Miyajimaa. aFirst Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan; bLaboratory of Human Brain Imaging Research, Molecular Imaging Frontier Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan Background: Hashimoto's encephalopathy is a steroid-responsive neurological syndrome associated with the existence of anti-thyroid antibodies, which is characterized by various neuropsychiatric symptoms. The autoimmune mechanisms are thought to play a pathogenic role in this disorder. Recently, some reports showed an elevated serum IgG4 level in patients with Hashimoto's thyroiditis. Objective: The pathogenic role of IgG4 in a patient with Hashimoto's encephalopathy is investigated. Patient and method: The patient was a 60-year-old Japanese male who presented with a 6-month history of progressive gait disturbance. He developed memory disturbance and involuntary movements of his face and neck 2 months after presentation. The IgG4 concentrations in the serum and cerebrospinal fluid, MRI scans of brain, and response of corticosteroid therapy were investigated. Results: A neurological examination revealed cerebellar ataxia and grimacing face with cervical dystonia. The MMSE score and FAB score were within normal range. Laboratory tests revealed a high titer of
anti-thyroglobulin antibodies in the serum. The serum IgG4 concentration was elevated (298 mg/dl; normal: 4.8–105). A CSF analysis revealed an elevated level of IgG4 (3.5 mg/dl; normal: not detected). There was no clinical finding suggesting complications of IgG4related disease. A brain MRI revealed symmetrical periventricular high signal intensity on T2-weighted images and FLAIR images. Corticosteroid therapy improved the neurological symptoms, intrathecal IgG4 level, and abnormal MRI findings. Conclusion: An elevated IgG4 level in the cerebrospinal fluid, as well as in the serum, may provide helpful clues about the possible autoimmune mechanism involved in Hashimoto's encephalopathy. doi:10.1016/j.jns.2013.07.2080
Abstract — WCN 2013 No: 404 Topic: 36 — Other Topic BMI impact on neurological diseases J. Xhaxhoa, I. Alimehmetib, S. Xhaxhoc, J. Krujaa, D. Dobic. aDepartment of Neurology, Tirana, Albania; bDepartment of Endocrinology, Tirana, Albania; cCUHT Albania, Tirana, Albania Introduction: In neurological practice there were more patients with obesity-related diseases such as follows: stroke, headache, tunnel carpal syndrome, intracranial hypertension, etc. Aim: The aim of this study is to investigate the impact of BMI in some neurological diseases. Methods: We included in this study 263 persons. 154 of them were hospitalized in the Clinic of Neurology, in University Hospital Centre “Mother Teresa”, Tirana and 109 were control group (They are random persons with the same age-group with the admitted persons). For all of them we fulfilled a form with general data and specific data on risk factors for several neurological diseases. We classified them in 4 groups. For every person we calculate the BMI. We compared BMI of control group with BMI of persons with neurological diseases. Results: We found that the BMI was 1 kg/m2 greater in stroke patients compared with control group and that there was a difference of 0.6 kg/m2 in patients with other neurological diagnosis compared with control group (z b 0.01). BMI was 0.5 kg/m2 greater in control group with arterial hypertension compared with patients with arterial hypertension with neurological diseases. BMI was 1.25 kg/m2 greater in control group with mellitus diabetes compared with patients with mellitus diabetes with neurological diseases. BMI was 2 kg/m2 greater in smoker patients with neurologic diseases compared with control group. BMI was 2 kg/m2 greater in alcoholic persons with neurologic disease than control group. Conclusion: Obesity is a significant risk factor for neurological diseases. doi:10.1016/j.jns.2013.07.2081
Abstract — WCN 2013 No: 374 Topic: 36 — Other Topic Neurological diseases in pregnancy D. Ndoja, A. Kuqo, J. Naska, A. Rroji, L. Stefanidhi, L. Buda, J. Kruja. Department of Neurology, UHC Mother Theresa, Service of Neurology and Radiology, Tirana, Albania Objective and materials: Eleven pregnant women aged 28.72 years old (DS +/− 7.18; mean age: 16–37 years) admitted in our