- Email: [email protected]
Is tracheostomy still an option in amyotrophic lateral sclerosis? Reflections of a multidisciplinary work group
Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
right limb. Inability to walk and bulbar symptoms are present since the age of 40. Additionally, personality changes, delusions and progressive cognitive decline started about 12 years after the onset of motor manifestations. Currently she has severe cognitive impairment with a delusional disorder and confabulations. Motor examination revealed tongue amyotrophy and fasciculations, dysarthria, tetraplegia, upper limb hyporeflexia and lower limb hyperreflexia, as well as marked generalized muscle wasting and diffuse, active denervation in the EMG. While the severe cortical atrophy – especially affecting the left temporal lobe – observed in 3-tesla MRI, was congruent with the predominantly left temporal hypometabolism showed through brain PET scan, the PET–MRI fusion image demonstrated a pattern of generalized cortical hypometabolism. Conclusion: We present the detailed phenotypic characterization of a patient with C9ORF72-associated ALS/FTD. We highlight the potential contribution of PET–MRI fusion image to the understanding of this disorder, since it allows correcting the metabolic activity for the degree of cortical atrophy observed with MRI. doi:10.1016/j.jns.2013.07.1597
Abstract - WCN 2013 No: 1714 Topic: 7 - Neuromuscular disorders Anoctamin 5 myopathy: More patients, more phenotypes A. Behina, F. Leturcqb, M. Cosséeb, K. Wahbia, N. Deburgraveb, H.-M. Bécanea, R.-Y. Carlierc, P. Laforêta, T. Stojkovica, P. Carlierd, B. Eymarda. a Centre de Reference de Pathologie Neuromusculaire Paris Est, APHP, GH Pitié-Salpêtrière, France; bLaboratoire de Biologie Moléculaire, Pavillon Cassini, APHP, GH Cochin, Paris, France; cService de Neuroradiologie, APHP, GH Raymond Poincaré, Garches, France; dLaboratoire de RMN, Institut de Myologie, Paris, France Background: Anoctamin 5 myopathies are autosomal recessive disorders resulting from mutations in the ANO5 gene. Objective: To present the expanding spectrum of the disease. Patients and methods: We present here a cohort of patients diagnosed in Paris since 2011, when genetic testing became available in France. Patients tested include known but unexplained cases of muscle dystrophy and new patients diagnosed as possible anoctamin 5 myopathies on clinical grounds. Results: 31 patients, stemming from 26 families, display two mutations of the ANO5 gene, including 24 men and 7 women, the latter being less severely affected in a majority of cases. Mean age of onset was 32 years (range 10–50 years). Clinical pattern was LGMD2L in 22%, Miyoshi-type distal myopathy (MMD3) in 22%, proximo-distal weakness in 4%, exercise intolerance in 22%, isolated high-CKs in 16% of cases. Two further patients presented with a pseudo-Becker dystrophy and 2 female patients developed a severe, calpain-like limb-girdle myopathy. 6 patients presented with cardiac abnormalities on echocardiography, leading to medical treatment in 3 cases. CK levels were usually very high, ranging from 3.5 to 125 times the normal value. Muscle imaging showed a constant involvement of medial gastrocnemii. Most patients harboured heterozygous private mutations, except for the common c.191dupA duplication. Conclusion: Anoctamin 5 myopathy appears as a major cause of muscle dystrophy, sharing similarities with dysferlinopathies. However, later onset, slower course and the presence of dysferlin on muscle immunostainings distinguish anocrtamin 5 myopathies, as well as some particular phenotypes and mild heart involvement. doi:10.1016/j.jns.2013.07.1598
e447
Abstract - WCN 2013 No: 1744 Topic: 7 - Neuromuscular disorders Is tracheostomy still an option in amyotrophic lateral sclerosis? Reflections of a multidisciplinary work group A.-C. Héritier Barrasa, R. Iancu Ferfogliaa, J.-P. Janssensb, CeSLA. a Neurology Clinic, University Hospitals of Geneva, Geneva, Switzerland; b Division de Pneumologie, University Hospitals of Geneva, Geneva, Switzerland Question under study: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with a poor prognosis. Survival and quality of life of ALS patients have improved through the implementation of multidisciplinary approaches, the use of percutaneous gastrostomy and of non-invasive (NIV) or invasive ventilation. The question of whether or not to propose invasive ventilation (by tracheostomy: TPPV) to ALS patients remains a matter of debate. Methods: The present study reviews the medical literature, the practice in Swiss and two large French ALS expert centres, and reports the results of a work group on invasive ventilation in ALS. Results: Improved management of secretions and using different interfaces allows using NIV 24 h a day for prolonged periods and thus avoiding TPPV in many cases. TPPV is frequently initiated in emergency situations with lack of prior informed consent. TPPV appears associated with a lesser quality of life (QoL) and a higher risk of institutionalization than NIV. The high burden placed on caregivers who manage ALS patients is a major problem with a clear impact on their QoL. Conclusions: Current practice in Switzerland and France tends to discourage the use of TPPV in ALS. Fear of a “locked-in syndrome”, high burden placed on caregivers, unmasking cognitive disorders occurring late in the evolution of ALS are some of the caveats when considering TPPV. Most decisions of TPPV are taken in emergency situations in the absence of advanced directives. One exception is that of young motivated patients with predominantly bulbar disease who “fail” NIV. doi:10.1016/j.jns.2013.07.1599
Abstract - WCN 2013 No: 1656 Topic: 7 - Neuromuscular disorders Spinal cord atrophy correlates with disease severity in amyotrophic lateral sclerosis H.M.T. Andrade, L.M.T. Branco, M. Albuquerque, F.P.G. Bergo, A. Nucci, M.C. França Jr. Neurology, UNICAMP, Campinas, Brazil Background: Biomarkers are needed to help in the diagnosis and long term care of patients with ALS. SC damage is a pathological hallmark of the disease, but there are few studies that investigated quantitative MRI of the SC as a biomarker in ALS. Objective: To investigate spinal cord (SC) atrophy in Amyotrophic lateral sclerosis (ALS), and to determine whether it correlates with clinical parameters. Methods: Forty-three patients with ALS (25 men) and 43 age-andgender-matched healthy controls underwent MRI on a 3T scanner. We used T1-weighted 3D images covering the whole brain and the cervical SC to estimate cervical SC area and eccentricity at C2/C3 level based on a semi-automatic image segmentation protocol using a validated software (Spineseg). Acquisition parameters: TE = 3.2 ms, TR = 7.1 ms, flip angle = 8°, voxel size = 1.0 mm3 and FOV = 240 × 240. Disease severity was quantified with the ALS functional rating scale. SC areas of patients and controls were compared with Mann–Whitney test. We used linear regression to investigate the association of SC area and clinical parameters.
right limb. Inability to walk and bulbar symptoms are present since the age of 40. Additionally, personality changes, delusions and progressive cognitive decline started about 12 years after the onset of motor manifestations. Currently she has severe cognitive impairment with a delusional disorder and confabulations. Motor examination revealed tongue amyotrophy and fasciculations, dysarthria, tetraplegia, upper limb hyporeflexia and lower limb hyperreflexia, as well as marked generalized muscle wasting and diffuse, active denervation in the EMG. While the severe cortical atrophy – especially affecting the left temporal lobe – observed in 3-tesla MRI, was congruent with the predominantly left temporal hypometabolism showed through brain PET scan, the PET–MRI fusion image demonstrated a pattern of generalized cortical hypometabolism. Conclusion: We present the detailed phenotypic characterization of a patient with C9ORF72-associated ALS/FTD. We highlight the potential contribution of PET–MRI fusion image to the understanding of this disorder, since it allows correcting the metabolic activity for the degree of cortical atrophy observed with MRI. doi:10.1016/j.jns.2013.07.1597
Abstract - WCN 2013 No: 1714 Topic: 7 - Neuromuscular disorders Anoctamin 5 myopathy: More patients, more phenotypes A. Behina, F. Leturcqb, M. Cosséeb, K. Wahbia, N. Deburgraveb, H.-M. Bécanea, R.-Y. Carlierc, P. Laforêta, T. Stojkovica, P. Carlierd, B. Eymarda. a Centre de Reference de Pathologie Neuromusculaire Paris Est, APHP, GH Pitié-Salpêtrière, France; bLaboratoire de Biologie Moléculaire, Pavillon Cassini, APHP, GH Cochin, Paris, France; cService de Neuroradiologie, APHP, GH Raymond Poincaré, Garches, France; dLaboratoire de RMN, Institut de Myologie, Paris, France Background: Anoctamin 5 myopathies are autosomal recessive disorders resulting from mutations in the ANO5 gene. Objective: To present the expanding spectrum of the disease. Patients and methods: We present here a cohort of patients diagnosed in Paris since 2011, when genetic testing became available in France. Patients tested include known but unexplained cases of muscle dystrophy and new patients diagnosed as possible anoctamin 5 myopathies on clinical grounds. Results: 31 patients, stemming from 26 families, display two mutations of the ANO5 gene, including 24 men and 7 women, the latter being less severely affected in a majority of cases. Mean age of onset was 32 years (range 10–50 years). Clinical pattern was LGMD2L in 22%, Miyoshi-type distal myopathy (MMD3) in 22%, proximo-distal weakness in 4%, exercise intolerance in 22%, isolated high-CKs in 16% of cases. Two further patients presented with a pseudo-Becker dystrophy and 2 female patients developed a severe, calpain-like limb-girdle myopathy. 6 patients presented with cardiac abnormalities on echocardiography, leading to medical treatment in 3 cases. CK levels were usually very high, ranging from 3.5 to 125 times the normal value. Muscle imaging showed a constant involvement of medial gastrocnemii. Most patients harboured heterozygous private mutations, except for the common c.191dupA duplication. Conclusion: Anoctamin 5 myopathy appears as a major cause of muscle dystrophy, sharing similarities with dysferlinopathies. However, later onset, slower course and the presence of dysferlin on muscle immunostainings distinguish anocrtamin 5 myopathies, as well as some particular phenotypes and mild heart involvement. doi:10.1016/j.jns.2013.07.1598
e447
Abstract - WCN 2013 No: 1744 Topic: 7 - Neuromuscular disorders Is tracheostomy still an option in amyotrophic lateral sclerosis? Reflections of a multidisciplinary work group A.-C. Héritier Barrasa, R. Iancu Ferfogliaa, J.-P. Janssensb, CeSLA. a Neurology Clinic, University Hospitals of Geneva, Geneva, Switzerland; b Division de Pneumologie, University Hospitals of Geneva, Geneva, Switzerland Question under study: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with a poor prognosis. Survival and quality of life of ALS patients have improved through the implementation of multidisciplinary approaches, the use of percutaneous gastrostomy and of non-invasive (NIV) or invasive ventilation. The question of whether or not to propose invasive ventilation (by tracheostomy: TPPV) to ALS patients remains a matter of debate. Methods: The present study reviews the medical literature, the practice in Swiss and two large French ALS expert centres, and reports the results of a work group on invasive ventilation in ALS. Results: Improved management of secretions and using different interfaces allows using NIV 24 h a day for prolonged periods and thus avoiding TPPV in many cases. TPPV is frequently initiated in emergency situations with lack of prior informed consent. TPPV appears associated with a lesser quality of life (QoL) and a higher risk of institutionalization than NIV. The high burden placed on caregivers who manage ALS patients is a major problem with a clear impact on their QoL. Conclusions: Current practice in Switzerland and France tends to discourage the use of TPPV in ALS. Fear of a “locked-in syndrome”, high burden placed on caregivers, unmasking cognitive disorders occurring late in the evolution of ALS are some of the caveats when considering TPPV. Most decisions of TPPV are taken in emergency situations in the absence of advanced directives. One exception is that of young motivated patients with predominantly bulbar disease who “fail” NIV. doi:10.1016/j.jns.2013.07.1599
Abstract - WCN 2013 No: 1656 Topic: 7 - Neuromuscular disorders Spinal cord atrophy correlates with disease severity in amyotrophic lateral sclerosis H.M.T. Andrade, L.M.T. Branco, M. Albuquerque, F.P.G. Bergo, A. Nucci, M.C. França Jr. Neurology, UNICAMP, Campinas, Brazil Background: Biomarkers are needed to help in the diagnosis and long term care of patients with ALS. SC damage is a pathological hallmark of the disease, but there are few studies that investigated quantitative MRI of the SC as a biomarker in ALS. Objective: To investigate spinal cord (SC) atrophy in Amyotrophic lateral sclerosis (ALS), and to determine whether it correlates with clinical parameters. Methods: Forty-three patients with ALS (25 men) and 43 age-andgender-matched healthy controls underwent MRI on a 3T scanner. We used T1-weighted 3D images covering the whole brain and the cervical SC to estimate cervical SC area and eccentricity at C2/C3 level based on a semi-automatic image segmentation protocol using a validated software (Spineseg). Acquisition parameters: TE = 3.2 ms, TR = 7.1 ms, flip angle = 8°, voxel size = 1.0 mm3 and FOV = 240 × 240. Disease severity was quantified with the ALS functional rating scale. SC areas of patients and controls were compared with Mann–Whitney test. We used linear regression to investigate the association of SC area and clinical parameters.