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Vulnerability of thenar muscle and sensory neuronopathy in patients with amyotrophic lateral sclerosis (ALS)
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Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
Abstract - WCN 2013 No: 2699 Topic: 7 - Neuromuscular disorders Peripheral neuropathy in neurofibromatoses M. Polonia, R. Barbòb. aNeurosciences, HPG 23, Bergamo, Italy; b Neurosciences, ICH Gavazzeni, Bergamo, Italy Neurofibromas are benign tumors which originate from peripheral nerves and are, together with others pathognomonic symptoms, a common finding in Neurofibromatosis 1 (NF1) conversely Neurofibromatosis 2 (NF2) or central neurofibromatosis is characterized by abnormal growth of Schwann cell tumors called schwannomas (SCH) at vestibular nerves, beyond meningiomas, ependimomas and SCHs of other cranial nerves or different Central Nervous System (CNS) tumors. NF1 is a genetic disorder transmitted thorough chromosome 17 due to neurofibromin alterations and abnormal tumors growth with rare Malignant Peripheral Nerve Tumors (MPNT), while NF2 is linked to merlin abnormalities and is at same genetically transmitted but through chromosome 22. Peripheral neuropathy (PN) appears rarely in NF1, ranging from 0 to 4.3 % of patients in different casistics, while retains only instrumental evidence in NF2 where mononeuropathy, generally as a foot drop or a facial palsy, is relatively common. Three interesting cases of important and distressing peripheral neuropathy, one affected by NF1 and two brothers affected by NF2, have been seen and studied at the NF Ambulatorial Center of Bergamo: we want to share the clinical and instrumental characteristics of these patients, discussing the differential diagnosis and arguing the different pathogenetic mechanisms. doi:10.1016/j.jns.2013.07.1666
Abstract - WCN 2013 No: 2686 Topic: 7 - Neuromuscular disorders Facial onset sensory and motor neuronopathy: A neurodegenerative TDP-43 proteinopathy? E.P. Boscha, B.P. Goodmana, J.A. Tracyb, P.J.B. Dyckb, C. Gianninic. a Neurology, Mayo Clinic Arizona, Scottsdale, AZ, USA; bNeurology, Mayo Clinic Rochester, Rochester, MN, USA; cPathology, Mayo Clinic Rochester, Rochester, MN, USA Background: Vucic et al. (Brain, 2006) described four adult males with facial sensory loss gradually spreading to cervical and brachial dermatomes associated with LMN weakness of cranio-bulbar and upper extremity (UE) distribution. Autopsy suggested a neurodegenerative process affecting motor neurons and sensory ganglia. Objective: We report clinical, electrophysiologic and pathologic features of six new cases of facial onset sensory and motor neuronopathy or FOSMN syndrome. Design and methods: A retrospective review of patients referred to Mayo Clinic from 2004 to 2012 identified six males who met the clinical features of FOSMN. Results: The age of onset ranged from 55 to 63 years. The presenting symptoms, years after onset, were facial numbness (5), dysphagia (3), and masseter weakness (2). Sensory loss spread to scalp, neck, upper torso and distal UEs. Patients developed facial, masseter, bulbar, neck flexor/extensor and LMN weakness of UEs. Four patients died of complications 6 to 9 years after onset. Electrodiagnostic studies revealed blink reflex abnormalities, reduced sensory nerve action potentials in UEs, and chronic denervation mainly in cranial and cervical regions. Biopsies of greater auricular nerves revealed low grade axonal degeneration. One patient came to autopsy: Neuronal loss and gliosis with TDP-43 positive cytoplasmic neuronal
and glial inclusions were present in hyploglossal nucleus and cervical motor neurons. Conclusion: FOSMN syndrome is a rare, progressive disorder affecting sensory and motor neurons in a cranio-caudal descending distribution. FOSMN syndrome joins sporadic ALS, frontotemporal lobar degeneration (FTLD-U) and other neurodegenerative disorders as a TDP-43 proteinopathy. doi:10.1016/j.jns.2013.07.1667
Abstract - WCN 2013 No: 760 Topic: 7 - Neuromuscular disorders Vulnerability of thenar muscle and sensory neuronopathy in patients with amyotrophic lateral sclerosis (ALS) C.-H. Kima, S.-Y. Kwonb. aPhysical Medicine & Rehabilitation, Inha University, Inchon, Republic of Korea; bPhysical Medicine & Rehabilitation, Inha University Hospital, Inchon, Republic of Korea Background: Among them thenar muscles were weakened earlier in amyotrophic lateral sclerosis (ALS). Objective: To figure out whether that happens due to the early vulnerability of median nerve or susceptible overlapping peripheral neuropathy such as carpal tunnel syndrome (CTS). Patients and methods: We selected 35 cases of ALS patients who had full electrophysiologic data and 50 age-matched control cases. We excluded pediatric patients and patients with incomplete medical records. Mean age of ALS patients was 61.7 ± 11.1 years, and that of control was 53.5 ± 13.9 years. Results: In control subjects, comparison of median to ulnar CMAP amplitudes showed no statistical difference (median 7.7 ± 1.8 mV, ulnar 7.7 ± 1.7 mV, p = 0.00). Also, CNAP amplitudes showed a statistical difference (median 41.5 ± 18.5 μV, ulnar 36.5 ± 17.3 μV, p = 0.04), whereas sensory nerve conduction velocity (NCV) showed no significant difference (median 45.5 ± 4.0 m/s, ulnar 45.6 ± 7.6 m/s, p = 0.95) by T test. In ALS patients, comparison of CMAP amplitude (median 3.9 ± 2.7 mV, ulnar 5.5 ± 2.4 mV, p = 0.00) and MDL showed significant difference (median 4.1 ± 0.9 ms, ulnar 3.1 ± 0.5 ms, p = 0.00) by T test. In contrast, comparison of CNAP amplitudes showed no statistical difference (median 22.0 ± 11.4 μV, ulnar 19.9 ± 8.8 μV, p = 0.37), and so did the sensory NCV (median 41.5 ± 7.6 m/s, ulnar 42.0 ± 5.9 m/s, p = 0.58) by T test. Conclusion: We reconfirm that thenar muscles were more vulnerable than hypothenar muscles in ALS patients.
doi:10.1016/j.jns.2013.07.1668
Abstract - WCN 2013 No: 2664 Topic: 7 - Neuromuscular disorders Dermatomyositis in elderly, disease that should be recognized — case report M. Perovskaa, K. Majstorovicb, A. Arsovskac. aUniversity Clinic of Neurology Skopje, Ohrid, The Former Yugoslav Republic of Macedonia; b Institute of Nephrology Struga, Ohrid, The Former Yugoslav Republic of Macedonia; cUniversity Clinic of Neurology Skopje, Skopje, FYROM — The Former Yugoslav Republic of Macedonia Our aim was to present late onset of dermatomyositis as a chronic autoimmune condition, importance in differential diagnosis with other conditions and the possibility of underlying malignancy.
Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
Abstract - WCN 2013 No: 2699 Topic: 7 - Neuromuscular disorders Peripheral neuropathy in neurofibromatoses M. Polonia, R. Barbòb. aNeurosciences, HPG 23, Bergamo, Italy; b Neurosciences, ICH Gavazzeni, Bergamo, Italy Neurofibromas are benign tumors which originate from peripheral nerves and are, together with others pathognomonic symptoms, a common finding in Neurofibromatosis 1 (NF1) conversely Neurofibromatosis 2 (NF2) or central neurofibromatosis is characterized by abnormal growth of Schwann cell tumors called schwannomas (SCH) at vestibular nerves, beyond meningiomas, ependimomas and SCHs of other cranial nerves or different Central Nervous System (CNS) tumors. NF1 is a genetic disorder transmitted thorough chromosome 17 due to neurofibromin alterations and abnormal tumors growth with rare Malignant Peripheral Nerve Tumors (MPNT), while NF2 is linked to merlin abnormalities and is at same genetically transmitted but through chromosome 22. Peripheral neuropathy (PN) appears rarely in NF1, ranging from 0 to 4.3 % of patients in different casistics, while retains only instrumental evidence in NF2 where mononeuropathy, generally as a foot drop or a facial palsy, is relatively common. Three interesting cases of important and distressing peripheral neuropathy, one affected by NF1 and two brothers affected by NF2, have been seen and studied at the NF Ambulatorial Center of Bergamo: we want to share the clinical and instrumental characteristics of these patients, discussing the differential diagnosis and arguing the different pathogenetic mechanisms. doi:10.1016/j.jns.2013.07.1666
Abstract - WCN 2013 No: 2686 Topic: 7 - Neuromuscular disorders Facial onset sensory and motor neuronopathy: A neurodegenerative TDP-43 proteinopathy? E.P. Boscha, B.P. Goodmana, J.A. Tracyb, P.J.B. Dyckb, C. Gianninic. a Neurology, Mayo Clinic Arizona, Scottsdale, AZ, USA; bNeurology, Mayo Clinic Rochester, Rochester, MN, USA; cPathology, Mayo Clinic Rochester, Rochester, MN, USA Background: Vucic et al. (Brain, 2006) described four adult males with facial sensory loss gradually spreading to cervical and brachial dermatomes associated with LMN weakness of cranio-bulbar and upper extremity (UE) distribution. Autopsy suggested a neurodegenerative process affecting motor neurons and sensory ganglia. Objective: We report clinical, electrophysiologic and pathologic features of six new cases of facial onset sensory and motor neuronopathy or FOSMN syndrome. Design and methods: A retrospective review of patients referred to Mayo Clinic from 2004 to 2012 identified six males who met the clinical features of FOSMN. Results: The age of onset ranged from 55 to 63 years. The presenting symptoms, years after onset, were facial numbness (5), dysphagia (3), and masseter weakness (2). Sensory loss spread to scalp, neck, upper torso and distal UEs. Patients developed facial, masseter, bulbar, neck flexor/extensor and LMN weakness of UEs. Four patients died of complications 6 to 9 years after onset. Electrodiagnostic studies revealed blink reflex abnormalities, reduced sensory nerve action potentials in UEs, and chronic denervation mainly in cranial and cervical regions. Biopsies of greater auricular nerves revealed low grade axonal degeneration. One patient came to autopsy: Neuronal loss and gliosis with TDP-43 positive cytoplasmic neuronal
and glial inclusions were present in hyploglossal nucleus and cervical motor neurons. Conclusion: FOSMN syndrome is a rare, progressive disorder affecting sensory and motor neurons in a cranio-caudal descending distribution. FOSMN syndrome joins sporadic ALS, frontotemporal lobar degeneration (FTLD-U) and other neurodegenerative disorders as a TDP-43 proteinopathy. doi:10.1016/j.jns.2013.07.1667
Abstract - WCN 2013 No: 760 Topic: 7 - Neuromuscular disorders Vulnerability of thenar muscle and sensory neuronopathy in patients with amyotrophic lateral sclerosis (ALS) C.-H. Kima, S.-Y. Kwonb. aPhysical Medicine & Rehabilitation, Inha University, Inchon, Republic of Korea; bPhysical Medicine & Rehabilitation, Inha University Hospital, Inchon, Republic of Korea Background: Among them thenar muscles were weakened earlier in amyotrophic lateral sclerosis (ALS). Objective: To figure out whether that happens due to the early vulnerability of median nerve or susceptible overlapping peripheral neuropathy such as carpal tunnel syndrome (CTS). Patients and methods: We selected 35 cases of ALS patients who had full electrophysiologic data and 50 age-matched control cases. We excluded pediatric patients and patients with incomplete medical records. Mean age of ALS patients was 61.7 ± 11.1 years, and that of control was 53.5 ± 13.9 years. Results: In control subjects, comparison of median to ulnar CMAP amplitudes showed no statistical difference (median 7.7 ± 1.8 mV, ulnar 7.7 ± 1.7 mV, p = 0.00). Also, CNAP amplitudes showed a statistical difference (median 41.5 ± 18.5 μV, ulnar 36.5 ± 17.3 μV, p = 0.04), whereas sensory nerve conduction velocity (NCV) showed no significant difference (median 45.5 ± 4.0 m/s, ulnar 45.6 ± 7.6 m/s, p = 0.95) by T test. In ALS patients, comparison of CMAP amplitude (median 3.9 ± 2.7 mV, ulnar 5.5 ± 2.4 mV, p = 0.00) and MDL showed significant difference (median 4.1 ± 0.9 ms, ulnar 3.1 ± 0.5 ms, p = 0.00) by T test. In contrast, comparison of CNAP amplitudes showed no statistical difference (median 22.0 ± 11.4 μV, ulnar 19.9 ± 8.8 μV, p = 0.37), and so did the sensory NCV (median 41.5 ± 7.6 m/s, ulnar 42.0 ± 5.9 m/s, p = 0.58) by T test. Conclusion: We reconfirm that thenar muscles were more vulnerable than hypothenar muscles in ALS patients.
doi:10.1016/j.jns.2013.07.1668
Abstract - WCN 2013 No: 2664 Topic: 7 - Neuromuscular disorders Dermatomyositis in elderly, disease that should be recognized — case report M. Perovskaa, K. Majstorovicb, A. Arsovskac. aUniversity Clinic of Neurology Skopje, Ohrid, The Former Yugoslav Republic of Macedonia; b Institute of Nephrology Struga, Ohrid, The Former Yugoslav Republic of Macedonia; cUniversity Clinic of Neurology Skopje, Skopje, FYROM — The Former Yugoslav Republic of Macedonia Our aim was to present late onset of dermatomyositis as a chronic autoimmune condition, importance in differential diagnosis with other conditions and the possibility of underlying malignancy.