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Blink reflex excitability abnormalities in multiple sclerosis
Abstracts / Journal of the Neurological Sciences e629 (2013) e629–e678
life, reaching 89.0 cm. The patient was born with CP: 35 cm, Apgar: 7, 9. Mother informs that the child presents tonic crisis 3–4 times/day, lasting 10 s, with diuresis. A respiratory discomfort is noticed depending on the position of the head. There is a similar family history, who died with 9 months. Results: MRI shows the presence only of hindbrain and midbrain structures with extensive malformations. The cerebellum has a significant shift to the right and severe compression by the presence of fluid beneath the tent of the cerebellum. Only a small portion of the telencephalon, near the tent of the cerebellum and the occipital bone, is visible. The huge volume of the skull is due to the fluid accumulated. There was no closure of the cranial vault, with persistence of the fontanelles. The midbrain aqueduct has its diameter size noticeably reduced, which implies difficulty in CSF flow. Conclusion: This is an unusual case of a congenital giant macrocephaly associated with hydrocephalus and encephalon malformation, which reflects its difficult treatment choice.
S. Bianchi, A. Rufa, C. Vinciguerra, G.N. Gallus, M.T. Dotti, A. Federico. Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy Background: Most of causative mutations of the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are missense mutations either creating or deleting one cysteine residue, inherited in a heterozygous state, in the NOTCH3 gene. Only two homozygous patients have been reported to date with minimal phenotypic peculiarities. Objective: To report a homozygous patient comparing his clinical profile with five subjects throughout three generation of his pedigree, carrying the same mutation in heterozygosity. Patient and methods: The index patient (IP) was a 44 year-old man, born from consanguineous parents. Other five relatives were examined. Personal and family histories, laboratory, neuropsychological and MRI assessments, skin biopsy (IP) and genetic testing have been collected. Result: Symptoms started at 23 years in our IP, progressed with recurrent ischemic stroke. Diffuse leukoencephalopathy at MRI and a severe cognitive decline were also present. GOMs were detected in skin specimens and a homozygous p.Cys183Ser mutation of the NOTCH 3 gene was found. Among the heterozygous relatives, both parents developed stroke in advanced age and a sister was clinically asymptomatic at the same age. Conclusion: Although homozygosity is not generally associated with worsened phenotype in autosomal dominant diseases, some differences may be noticed in clinical presentation or disease outcome. The case reported here would indicate that homozygosity is associated with an earlier onset of symptoms and a most severe clinical course compared to the heterozygous subjects of the same pedigree. However, we cannot exclude that other genes may influence clinical variability.
RO
doi:10.1016/j.jns.2013.07.2279
Abstract — WCN 2013 No: 2141 Topic: 36 — Other topic Homozygosity for P.Cys183ser mutation in Notch3 gene may influence the severity of clinical presentation? Report of an Italian family
OF
e658
DP
Abstract — WCN 2013 No: 1729 Topic: 36 — Other topic Blink reflex excitability abnormalities in multiple sclerosis
TE
C. Cabiba, E. Martinez-Herasb, S. Llufriub, J. Casanova-Mollaa, Y. Blancob, A. Saizb, J. Valls-Solea. aEMG Unit, Neurology Department, Hospital Clinic, University of Barcelona, Spain; bCenter for Neuroinmunology, Neurology Service, Hospital Clinic Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
UN
CO
RR
EC
Background: Brainstem dysfunctions in multiple sclerosis (MS) may be caused by either local brainstem lesions or changes in excitability modulation from supranuclear inputs. We hypothesized that while brainstem lesions lead to abnormalities in latency of BR (AbLat), supranuclear lesions lead to abnormalities in excitability measures (AbExc). Objective: To assess abnormalities in BR excitability in MS patients and their correlation with MRI-supranuclear lesions. Patients and methods: In 20 patients and 10 control subjects, we measured latencies and area of R1, R2 and R2c to single unilateral supraorbital stimulation of either side. We calculated the R2c/R2 ratio as a measure of asymmetric excitability enhancement. Patients were classified as having AbLat or AbExc when the values were above the mean + 2SD of our control group reference data. Brainstem and hemispheres (hLL) MRI-lesion load were measured with computer-assisted software (FSL). T-test and Spearman's test were used for statistics. Results: AbLat were found in 8 patients (7 of them had pontomedullary lesions). AbExc were found in 7 out of the remaining 12 patients. In these patients, a significantly larger R2c/R2 ratio (p = 0.03 with respect to controls) coincided with a significant enhancement of R1 amplitude (p = .0001 with respect to the contralateral side). They also showed a positive correlation between R2c/R2 ratio and ipsilateral hLL (r = 0.357), but only one had a lesion that compromised the trigeminal-facial circuit. Conclusion: Asymmetric BR excitability enhancement correlates with unilateral brain lesions in MS. These tests add information for the functional evaluation of the effects of brain LL on brainstem circuits. doi:10.1016/j.jns.2013.07.2280
doi:10.1016/j.jns.2013.07.2281
Abstract — WCN 2013 No: 2143 Topic: 36 — Other topic Neurologist brain-drain from Central-Eastern Europe: The effect on neurologist workforce in Hungary D. Bereczki, A. Ajtay. Department of Neurology, Semmelweis University, Budapest, Hungary Background: Since joining the European Union (EU) the workforce of Central-Eastern Europe has become free to be employed in most WestEuropean countries. Working conditions – including salary – are more favorable in West-Europe, where new EU regulations on working hours in healthcare have increased the demand for well-trained physicians. Therefore, a migration of neurologists was expected from formal communist countries of the EU to the West. We set forth to evaluate the effect of this process on recent changes in the number of active neurologists in Hungary. Methods: The number of active neurologists was identified from the database of the National Health Insurance Fund – the only and universal state health insurance organization in Hungary – for 2009 and 2012. We selected only those board certified neurologists who reported the examination of more than 1 case per week (N52 cases per year) to exclude those who do not perform regular activity in
life, reaching 89.0 cm. The patient was born with CP: 35 cm, Apgar: 7, 9. Mother informs that the child presents tonic crisis 3–4 times/day, lasting 10 s, with diuresis. A respiratory discomfort is noticed depending on the position of the head. There is a similar family history, who died with 9 months. Results: MRI shows the presence only of hindbrain and midbrain structures with extensive malformations. The cerebellum has a significant shift to the right and severe compression by the presence of fluid beneath the tent of the cerebellum. Only a small portion of the telencephalon, near the tent of the cerebellum and the occipital bone, is visible. The huge volume of the skull is due to the fluid accumulated. There was no closure of the cranial vault, with persistence of the fontanelles. The midbrain aqueduct has its diameter size noticeably reduced, which implies difficulty in CSF flow. Conclusion: This is an unusual case of a congenital giant macrocephaly associated with hydrocephalus and encephalon malformation, which reflects its difficult treatment choice.
S. Bianchi, A. Rufa, C. Vinciguerra, G.N. Gallus, M.T. Dotti, A. Federico. Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy Background: Most of causative mutations of the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are missense mutations either creating or deleting one cysteine residue, inherited in a heterozygous state, in the NOTCH3 gene. Only two homozygous patients have been reported to date with minimal phenotypic peculiarities. Objective: To report a homozygous patient comparing his clinical profile with five subjects throughout three generation of his pedigree, carrying the same mutation in heterozygosity. Patient and methods: The index patient (IP) was a 44 year-old man, born from consanguineous parents. Other five relatives were examined. Personal and family histories, laboratory, neuropsychological and MRI assessments, skin biopsy (IP) and genetic testing have been collected. Result: Symptoms started at 23 years in our IP, progressed with recurrent ischemic stroke. Diffuse leukoencephalopathy at MRI and a severe cognitive decline were also present. GOMs were detected in skin specimens and a homozygous p.Cys183Ser mutation of the NOTCH 3 gene was found. Among the heterozygous relatives, both parents developed stroke in advanced age and a sister was clinically asymptomatic at the same age. Conclusion: Although homozygosity is not generally associated with worsened phenotype in autosomal dominant diseases, some differences may be noticed in clinical presentation or disease outcome. The case reported here would indicate that homozygosity is associated with an earlier onset of symptoms and a most severe clinical course compared to the heterozygous subjects of the same pedigree. However, we cannot exclude that other genes may influence clinical variability.
RO
doi:10.1016/j.jns.2013.07.2279
Abstract — WCN 2013 No: 2141 Topic: 36 — Other topic Homozygosity for P.Cys183ser mutation in Notch3 gene may influence the severity of clinical presentation? Report of an Italian family
OF
e658
DP
Abstract — WCN 2013 No: 1729 Topic: 36 — Other topic Blink reflex excitability abnormalities in multiple sclerosis
TE
C. Cabiba, E. Martinez-Herasb, S. Llufriub, J. Casanova-Mollaa, Y. Blancob, A. Saizb, J. Valls-Solea. aEMG Unit, Neurology Department, Hospital Clinic, University of Barcelona, Spain; bCenter for Neuroinmunology, Neurology Service, Hospital Clinic Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
UN
CO
RR
EC
Background: Brainstem dysfunctions in multiple sclerosis (MS) may be caused by either local brainstem lesions or changes in excitability modulation from supranuclear inputs. We hypothesized that while brainstem lesions lead to abnormalities in latency of BR (AbLat), supranuclear lesions lead to abnormalities in excitability measures (AbExc). Objective: To assess abnormalities in BR excitability in MS patients and their correlation with MRI-supranuclear lesions. Patients and methods: In 20 patients and 10 control subjects, we measured latencies and area of R1, R2 and R2c to single unilateral supraorbital stimulation of either side. We calculated the R2c/R2 ratio as a measure of asymmetric excitability enhancement. Patients were classified as having AbLat or AbExc when the values were above the mean + 2SD of our control group reference data. Brainstem and hemispheres (hLL) MRI-lesion load were measured with computer-assisted software (FSL). T-test and Spearman's test were used for statistics. Results: AbLat were found in 8 patients (7 of them had pontomedullary lesions). AbExc were found in 7 out of the remaining 12 patients. In these patients, a significantly larger R2c/R2 ratio (p = 0.03 with respect to controls) coincided with a significant enhancement of R1 amplitude (p = .0001 with respect to the contralateral side). They also showed a positive correlation between R2c/R2 ratio and ipsilateral hLL (r = 0.357), but only one had a lesion that compromised the trigeminal-facial circuit. Conclusion: Asymmetric BR excitability enhancement correlates with unilateral brain lesions in MS. These tests add information for the functional evaluation of the effects of brain LL on brainstem circuits. doi:10.1016/j.jns.2013.07.2280
doi:10.1016/j.jns.2013.07.2281
Abstract — WCN 2013 No: 2143 Topic: 36 — Other topic Neurologist brain-drain from Central-Eastern Europe: The effect on neurologist workforce in Hungary D. Bereczki, A. Ajtay. Department of Neurology, Semmelweis University, Budapest, Hungary Background: Since joining the European Union (EU) the workforce of Central-Eastern Europe has become free to be employed in most WestEuropean countries. Working conditions – including salary – are more favorable in West-Europe, where new EU regulations on working hours in healthcare have increased the demand for well-trained physicians. Therefore, a migration of neurologists was expected from formal communist countries of the EU to the West. We set forth to evaluate the effect of this process on recent changes in the number of active neurologists in Hungary. Methods: The number of active neurologists was identified from the database of the National Health Insurance Fund – the only and universal state health insurance organization in Hungary – for 2009 and 2012. We selected only those board certified neurologists who reported the examination of more than 1 case per week (N52 cases per year) to exclude those who do not perform regular activity in