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P76-F DYNC1H1 gene mutation in an Estonian family
Abstracts / Clinical Neurophysiology 130 (2019) e21–e116
P75-F Evaluation of deterioration in sensory nerve conduction studies in Amyotrophic Lateral Sclerosis—Taskin Gunes *, Gorkem Sirin, Baris Isak (Department of Neurology, Marmara University Hospital, Istanbul, Turkey, TRIALS Study Group, Istanbul, Turkey) ⇑
Corresponding author.
Background: Many neurophysiological and pathological studies showed sensory abnormalities in ALS patients as a part of multisystem disease. In this study, we assessed progression of sensory changes in ALS patients, using nerve conduction studies (sNCS) in two consecutive visits. Material and methods: sNCSs were evaluated based on amplitudes and velocities of bilateral dorsal sural (DS), medial plantar, superficial peroneal (SP), sural and left radial sensory nerves. In addition a global Total Sensory Score (TSens) was determined using the amplitudes of these nerves. Results: Although, for both visits, TSens was smaller in patients (p = 0.04 and P = 0.01, for consecutive visits) then controls, there was no significant change between two visits of the patients (P = 0.19). ALS patients had significantly smaller amplitudes and slower velocities for bilateral DS, and left radial nerves for both visits. TSens was reduced in 7 (63.3%) but increased in 4 (36.6%) ALS patients. Conclusions: Although, ALS patients showed considerable changes in NCS, sensory denervation is probably slowly progressive. The patients with improved sNCS were attributed to possible changes in sensory nerve excitability following corrective measures, e.g. administration of parenteral gastrostomy or high caloric diet.
e89
Background: ALS is an incurable disease, but with the treatment of the symptoms, better quality of life could be achieved. So early diagnosis is important, especially in the case of bulbar sympto Blink reflex examination is a reliable measure of the microstructural brainstem integrity. Our aim was to examine the correlation of the presence of bulbar symptoms in ALS and the findings of blink reflex, to have a new supportive testing which indicates loss of the motor neurons and at the same time find parameters in estimating prognosis. Material and methods: Blink reflex findings were analysed between the 1st of June 2018 and 31st of December 2018. R1, ipsiand contralateral R2 was evaluated. Seven patients fulfilled the International ALS Guideline’s criteria. As a control group healthy adults were recruited. Results: Average age was 69 years. The parameters of blink reflex were as follows: the latency of R1 was increased in 42% of the patients (>12 ± 0.8 ms) and normal in 58%, the ipsilateral R2 wave’s latency was increased in 71% and in 29% absent, the contralateral R2 wave was absent in 86% and 14% had increased latencies (>35.5 ± 3.4 ms). All patients had pathological values of blink reflex showing the damage of brainstem interneurons, although with imaging techniques no abnormality was seen and on physical examination 37.5% of the patients had no bulbar sympto. Conclusion: Blink reflex could be a useful tool to support suspected ALS diagnosis, or bulbar involvement and to estimate the prognosis. doi:10.1016/j.clinph.2019.04.526
doi:10.1016/j.clinph.2019.04.524
P76-F DYNC1H1 gene mutation in an Estonian family—Kaidi Lunge a,*, Valentin Sander a, Inga Talvik a, Tiia Reimand b (a Tallinn Children’s Hospital, Tallinn, Estonia , b Tartu University Hospital, Tartu, Estonia) ⇑
Corresponding author.
Background: DYNC1H1 gene mutations have been related to many neuromuscular diseases, including autosomal dominant CharcotMarie-Tooth disease type 2O and autosomal dominant spinal muscular atrophy, with lower extremity predominance (SMA-LED). SMA-LED is a disease with large clinical variability. The early clinical signs are feet deformities, delayed walking and muscle weakness. Material and methods: We will present the case report with EMG findings of the family with SMA-LED confirmed by genetic analysis. Results: The diagnosis was confirmed with TrueSight One panel covering 4813 genes. Mutation M_001376.4(DYNC1H1):c.1869C>G p.Phe623Leu in DYNC1H1 gene was detected in mother and in two younger children of the family. Conclusion: When EMG examination shows neurogenic changes and signs of spinal atrophy, but SMN1 gene test is negative, then it is important to think about rare forms of spinal muscular atrophies. doi:10.1016/j.clinph.2019.04.525
P77-F Blink reflex, approach to examine the brainstem, focused on patients with amyotrophic lateral sclerosis (ALS)—Róbert Rostás *, Klára Fekete, István Fekete (University of Debrecen, Department of Neurology, Debrecen, Hungary) ⇑
Corresponding author.
P78-F Can we predict respiratory failure in patients with Amyotrophic Lateral Sclerosis (ALS) electrophysiologically?— Ceren Cetin Akkoc a,*, Fikret Bademkiran a, Ibrahim Aydogdu a, Sezai Tasbakan b (a Ege University, Faculty of Medicine, Department of Neurology, Izmir, Turkey, b Ege University, Faculty of Medicine, Department of Chest Diseases, Izmir, Turkey) ⇑
Corresponding author.
In ALS, respiratory complications are important in the prognosis of the disease. The aim of this study was to determine the electrophysiological findings that may predict respiratory failure. According to the Awaji electrodiagnostic criteria, 30 patients with ALS who were diagnosed as definite or probable ALS but without respiratory failure were included in the study. The patients were examined at intervals of 2–4 months. Neurological examination, nerve conduction studies, needle electromyography (EMG), pulmonary function test, electromyography of swallowing, arterial blood gas analysis and single breath count test were performed in all patients. Patients were followed until respiratory failure developed. One year follow-up, 17 patients developed respiratory distress. Neurological examinations and other tests were performed on average 3 times. The most sensitive finding that predicted respiratory failure was found to be neurogenic EMG recordings detected in sternocleidomastoid (SCM) muscle. It was observed that respiratory distress developed just after the participation of SCM and rectus abdominis muscles in the respiratory system. The reduction in the phrenic nerve compound muscle action potential amplitude is directly correlated to dyspnea, but its sensitivity is low. There is no sensitive biomarker predicting respiratory distress in patients with ALS. Although the number of cases in our study is not sufficient, neurogenic EMG findings in some muscles (such as SCM) and the participation of SCM and Rectus abdominis muscles to the
P75-F Evaluation of deterioration in sensory nerve conduction studies in Amyotrophic Lateral Sclerosis—Taskin Gunes *, Gorkem Sirin, Baris Isak (Department of Neurology, Marmara University Hospital, Istanbul, Turkey, TRIALS Study Group, Istanbul, Turkey) ⇑
Corresponding author.
Background: Many neurophysiological and pathological studies showed sensory abnormalities in ALS patients as a part of multisystem disease. In this study, we assessed progression of sensory changes in ALS patients, using nerve conduction studies (sNCS) in two consecutive visits. Material and methods: sNCSs were evaluated based on amplitudes and velocities of bilateral dorsal sural (DS), medial plantar, superficial peroneal (SP), sural and left radial sensory nerves. In addition a global Total Sensory Score (TSens) was determined using the amplitudes of these nerves. Results: Although, for both visits, TSens was smaller in patients (p = 0.04 and P = 0.01, for consecutive visits) then controls, there was no significant change between two visits of the patients (P = 0.19). ALS patients had significantly smaller amplitudes and slower velocities for bilateral DS, and left radial nerves for both visits. TSens was reduced in 7 (63.3%) but increased in 4 (36.6%) ALS patients. Conclusions: Although, ALS patients showed considerable changes in NCS, sensory denervation is probably slowly progressive. The patients with improved sNCS were attributed to possible changes in sensory nerve excitability following corrective measures, e.g. administration of parenteral gastrostomy or high caloric diet.
e89
Background: ALS is an incurable disease, but with the treatment of the symptoms, better quality of life could be achieved. So early diagnosis is important, especially in the case of bulbar sympto Blink reflex examination is a reliable measure of the microstructural brainstem integrity. Our aim was to examine the correlation of the presence of bulbar symptoms in ALS and the findings of blink reflex, to have a new supportive testing which indicates loss of the motor neurons and at the same time find parameters in estimating prognosis. Material and methods: Blink reflex findings were analysed between the 1st of June 2018 and 31st of December 2018. R1, ipsiand contralateral R2 was evaluated. Seven patients fulfilled the International ALS Guideline’s criteria. As a control group healthy adults were recruited. Results: Average age was 69 years. The parameters of blink reflex were as follows: the latency of R1 was increased in 42% of the patients (>12 ± 0.8 ms) and normal in 58%, the ipsilateral R2 wave’s latency was increased in 71% and in 29% absent, the contralateral R2 wave was absent in 86% and 14% had increased latencies (>35.5 ± 3.4 ms). All patients had pathological values of blink reflex showing the damage of brainstem interneurons, although with imaging techniques no abnormality was seen and on physical examination 37.5% of the patients had no bulbar sympto. Conclusion: Blink reflex could be a useful tool to support suspected ALS diagnosis, or bulbar involvement and to estimate the prognosis. doi:10.1016/j.clinph.2019.04.526
doi:10.1016/j.clinph.2019.04.524
P76-F DYNC1H1 gene mutation in an Estonian family—Kaidi Lunge a,*, Valentin Sander a, Inga Talvik a, Tiia Reimand b (a Tallinn Children’s Hospital, Tallinn, Estonia , b Tartu University Hospital, Tartu, Estonia) ⇑
Corresponding author.
Background: DYNC1H1 gene mutations have been related to many neuromuscular diseases, including autosomal dominant CharcotMarie-Tooth disease type 2O and autosomal dominant spinal muscular atrophy, with lower extremity predominance (SMA-LED). SMA-LED is a disease with large clinical variability. The early clinical signs are feet deformities, delayed walking and muscle weakness. Material and methods: We will present the case report with EMG findings of the family with SMA-LED confirmed by genetic analysis. Results: The diagnosis was confirmed with TrueSight One panel covering 4813 genes. Mutation M_001376.4(DYNC1H1):c.1869C>G p.Phe623Leu in DYNC1H1 gene was detected in mother and in two younger children of the family. Conclusion: When EMG examination shows neurogenic changes and signs of spinal atrophy, but SMN1 gene test is negative, then it is important to think about rare forms of spinal muscular atrophies. doi:10.1016/j.clinph.2019.04.525
P77-F Blink reflex, approach to examine the brainstem, focused on patients with amyotrophic lateral sclerosis (ALS)—Róbert Rostás *, Klára Fekete, István Fekete (University of Debrecen, Department of Neurology, Debrecen, Hungary) ⇑
Corresponding author.
P78-F Can we predict respiratory failure in patients with Amyotrophic Lateral Sclerosis (ALS) electrophysiologically?— Ceren Cetin Akkoc a,*, Fikret Bademkiran a, Ibrahim Aydogdu a, Sezai Tasbakan b (a Ege University, Faculty of Medicine, Department of Neurology, Izmir, Turkey, b Ege University, Faculty of Medicine, Department of Chest Diseases, Izmir, Turkey) ⇑
Corresponding author.
In ALS, respiratory complications are important in the prognosis of the disease. The aim of this study was to determine the electrophysiological findings that may predict respiratory failure. According to the Awaji electrodiagnostic criteria, 30 patients with ALS who were diagnosed as definite or probable ALS but without respiratory failure were included in the study. The patients were examined at intervals of 2–4 months. Neurological examination, nerve conduction studies, needle electromyography (EMG), pulmonary function test, electromyography of swallowing, arterial blood gas analysis and single breath count test were performed in all patients. Patients were followed until respiratory failure developed. One year follow-up, 17 patients developed respiratory distress. Neurological examinations and other tests were performed on average 3 times. The most sensitive finding that predicted respiratory failure was found to be neurogenic EMG recordings detected in sternocleidomastoid (SCM) muscle. It was observed that respiratory distress developed just after the participation of SCM and rectus abdominis muscles in the respiratory system. The reduction in the phrenic nerve compound muscle action potential amplitude is directly correlated to dyspnea, but its sensitivity is low. There is no sensitive biomarker predicting respiratory distress in patients with ALS. Although the number of cases in our study is not sufficient, neurogenic EMG findings in some muscles (such as SCM) and the participation of SCM and Rectus abdominis muscles to the