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INS;D1 expression in Schwann cell nucleus associated with the stage of nerve regeneration
Abstracts / Journal of the Neurological Sciences 333 (2013) e679–e727
Results: 10/10 patients showed the three reflexes present in the four limbs. After a year 8/10 had lost the two distal reflexes keeping the hyper reflexia of shoulder and limbs. Discussion: There is a lack of previous reports on these findings but, even when the study of a larger number of patients should be studied to validate this clinical sign, it seems to help the first time diagnostic. doi:10.1016/j.jns.2013.07.2433
Abstract — WCN 2013 No: 2691 Topic: 36 — Other Topic Psychiatric manifestation of adult form of Niemann–Pick type C. A case report A. Baumgartner, S. Nia, S. Geiblinger, C. Baumgartner. Karl Landsteiner Institute for Clinical Epilepsy Research and Cognitive Neurology, Vienna, Austria Background: Niemann–Pick type C (NPC) is a rare neurovisceral lipid storage disorder of autosomal inheritance, caused by abnormal intracellular cholesterol metabolism. In patients with adult form of NPC, psychiatric symptoms may precede neurological symptoms. If patients present with psychiatric manifestation of adult onset NPC, diagnosis is delayed. Objective: The objective of this case report is to raise awareness of inborn errors of metabolism, in particular NPC, as an organic cause for psychosis. Patients and methods: We describe the case of a young man, who initially presented with cognitive decline and psychotic symptoms at the age of 21 and was diagnosed with hebephrenic schizophrenia. He did not respond well to neuroleptics. At the age of 27 he was hospitalized at the neurology department due to progressive cognitive decline (MMSE 19/ 30). Results: Neurological examination revealed a supranuclear vertical gaze palsy, saccadic eye movements, bradykinesia, dysarthria and ataxia. There was mild atrophy in the MRI of the brain and diffuse slow activity in the EEG. Transaminase levels were elevated, abdominal sonography revealed hepatosplenomegaly. The combination of neurological, visceral and psychiatric symptoms raised the suspicion of NPC. Genetic testing of NPC1 and NPC2 gene was performed and showed homozygosity for a mutation in exon 13 of the NPC1 gene. Conclusion: NPC may initially present with psychosis in adults. In patients with psychiatric symptoms, in particular if they do not respond to neuroleptics, inborn errors of metabolism should be considered as organic cause of psychiatric manifestations, even in the absence of neurological and visceral symptoms. doi:10.1016/j.jns.2013.07.2434
Abstract — WCN 2013 No: 2821 Topic: 36 — Other Topic Cyclin D1 expression in Schwann cell nucleus associated with the stage of nerve regeneration T. Kawasakia, N. Okab, H. Yagia, I. Akiguchia. aCenter of Neurological and Cerebrovascular Diseases, Takeda Hospital, Japan; bNeurology, N.H.O. Minami-Kyoto National Hospital, Kyoto, Japan Objective: To investigate the roles of cell cycle-associated proteins in peripheral nerve, we examined the expression of cyclin D1 and pRB using immunohistochemistry. Background: D-type cyclins are required for the initial step in cell division and translocation into nuclei is crucial for promotion of cell proliferation. Cyclin D1 binds CDK4/6 and regulates cell cycle G1/S
e705
phase transition by a phosphorylation of pRB. In CMT1A, a different mechanism from acquired neuropathy acts to the proliferating process of Schwann cell. Axonal involvement advances in proportion as demyelination and its severity is correlated with clinical symptom. To clarify the role of axon–Schwann cell interaction may be a clue for elucidating the pathogenesis. Material and methods: Sural nerve biopsies from patients with CMT1A (n = 6), CMT2 (n = 5), CMTX (n = 2), CIDP (n = 6), acute axonal degeneration (n = 6), active nerve remyelination (n = 3) and control subjects (n = 3) were studied by immunohistochemistry. Each patient provided informed consent. Results: In controls, cyclin D1 immunoreactivity was found weakly in a part of Schwann cell cytoplasm. Actively regenerating nerves showed distinct cyclin D1 expression in cytoplasm of denervated Schwann cell clusters and nuclei. Both cyclin D1 and pRB positive Schwann cell nuclei were found in a part of onion bulb in only early stages of CMT1A. Conclusion: Cyclin D1 immunoreactivity was identified in Schwann cell nuclei under remyelinating process in early stages of CMT1A. These results seemed similar to axonal neuropathy, and suggested that a certain signal from remyelinating axons is involved in Schwann cell proliferation. doi:10.1016/j.jns.2013.07.2435
Abstract — WCN 2013 No: 2504 Topic: 36 — Other Topic Treatable cause of relapsing encephalopathy M. Langtreea, R. Armstrongb, R. Wimalaratnac, E. Sureshd, O. Ansorgee, S.H. Wimalaratnab. aMedicine, Kettering General Hospital, Kettering, UK; b Neurology, Oxford University Hospital, Oxford, UK; cMedicine, Royal Oldham Hospital, Manchester, UK; dMedicine, Alexandra Hospital, Singapore, Singapore; eNeuropathology, Oxford University Hospital, Oxford, UK A 68 year old builder presented with a two month history of slowly progressive impairment of memory, confusion, shuffling gait and urinary incontinence. He gradually became unresponsive. On admission he was abulic and progressed to coma. Examination: Neck and limbs were rigid. Reflexes were brisk with extensor plantars. Normal funduscopy. Full neurological exam was not possible. Investigations: ESR, 77 mm CRP 250. CSF 86cells (Poly30% Lym 70%). Protein 1.2 g/l. normal glucose. Blood count and electrolytes were normal. MRI brain showed diffused white matter abnormality bilaterally suggesting leukodystrophy. Progress: Treated empirically, with IV antibiotics and Acyclovir. He began to improve. Within two weeks his MMSE was 30/30. No focal neurology. Mobilised normally. Discharged home without a definite diagnosis. Four months later he was readmitted with two weeks history of progressive confusion, shuffling gait and incontinence. He later became comatose. Family revealed that he suffered intermittent deafness and redness of pinna. CSF showed 46 cells, 58% lymphocytes. High proteins and normal glucose. MRI brain was similar to previous one and MRA showed areas of restricted diffusion with contrast enhancement. EEG was diffusely slow. Brain biopsy showed vasculitis associated with giant cells without granuloma consistent with CNS vasculitis of relapsing polychondritis. Conclusion: CNS vasculitis secondary to relapsing polychondritis. Patient was treated with steroids and remained well during the 3 year follow up without further relapse on a low dose of oral steroids. Discussion: This paper describes a serious neurological complication of a rheumatological condition. Awareness of this association will help early diagnosis and correct treatment. doi:10.1016/j.jns.2013.07.2436
Results: 10/10 patients showed the three reflexes present in the four limbs. After a year 8/10 had lost the two distal reflexes keeping the hyper reflexia of shoulder and limbs. Discussion: There is a lack of previous reports on these findings but, even when the study of a larger number of patients should be studied to validate this clinical sign, it seems to help the first time diagnostic. doi:10.1016/j.jns.2013.07.2433
Abstract — WCN 2013 No: 2691 Topic: 36 — Other Topic Psychiatric manifestation of adult form of Niemann–Pick type C. A case report A. Baumgartner, S. Nia, S. Geiblinger, C. Baumgartner. Karl Landsteiner Institute for Clinical Epilepsy Research and Cognitive Neurology, Vienna, Austria Background: Niemann–Pick type C (NPC) is a rare neurovisceral lipid storage disorder of autosomal inheritance, caused by abnormal intracellular cholesterol metabolism. In patients with adult form of NPC, psychiatric symptoms may precede neurological symptoms. If patients present with psychiatric manifestation of adult onset NPC, diagnosis is delayed. Objective: The objective of this case report is to raise awareness of inborn errors of metabolism, in particular NPC, as an organic cause for psychosis. Patients and methods: We describe the case of a young man, who initially presented with cognitive decline and psychotic symptoms at the age of 21 and was diagnosed with hebephrenic schizophrenia. He did not respond well to neuroleptics. At the age of 27 he was hospitalized at the neurology department due to progressive cognitive decline (MMSE 19/ 30). Results: Neurological examination revealed a supranuclear vertical gaze palsy, saccadic eye movements, bradykinesia, dysarthria and ataxia. There was mild atrophy in the MRI of the brain and diffuse slow activity in the EEG. Transaminase levels were elevated, abdominal sonography revealed hepatosplenomegaly. The combination of neurological, visceral and psychiatric symptoms raised the suspicion of NPC. Genetic testing of NPC1 and NPC2 gene was performed and showed homozygosity for a mutation in exon 13 of the NPC1 gene. Conclusion: NPC may initially present with psychosis in adults. In patients with psychiatric symptoms, in particular if they do not respond to neuroleptics, inborn errors of metabolism should be considered as organic cause of psychiatric manifestations, even in the absence of neurological and visceral symptoms. doi:10.1016/j.jns.2013.07.2434
Abstract — WCN 2013 No: 2821 Topic: 36 — Other Topic Cyclin D1 expression in Schwann cell nucleus associated with the stage of nerve regeneration T. Kawasakia, N. Okab, H. Yagia, I. Akiguchia. aCenter of Neurological and Cerebrovascular Diseases, Takeda Hospital, Japan; bNeurology, N.H.O. Minami-Kyoto National Hospital, Kyoto, Japan Objective: To investigate the roles of cell cycle-associated proteins in peripheral nerve, we examined the expression of cyclin D1 and pRB using immunohistochemistry. Background: D-type cyclins are required for the initial step in cell division and translocation into nuclei is crucial for promotion of cell proliferation. Cyclin D1 binds CDK4/6 and regulates cell cycle G1/S
e705
phase transition by a phosphorylation of pRB. In CMT1A, a different mechanism from acquired neuropathy acts to the proliferating process of Schwann cell. Axonal involvement advances in proportion as demyelination and its severity is correlated with clinical symptom. To clarify the role of axon–Schwann cell interaction may be a clue for elucidating the pathogenesis. Material and methods: Sural nerve biopsies from patients with CMT1A (n = 6), CMT2 (n = 5), CMTX (n = 2), CIDP (n = 6), acute axonal degeneration (n = 6), active nerve remyelination (n = 3) and control subjects (n = 3) were studied by immunohistochemistry. Each patient provided informed consent. Results: In controls, cyclin D1 immunoreactivity was found weakly in a part of Schwann cell cytoplasm. Actively regenerating nerves showed distinct cyclin D1 expression in cytoplasm of denervated Schwann cell clusters and nuclei. Both cyclin D1 and pRB positive Schwann cell nuclei were found in a part of onion bulb in only early stages of CMT1A. Conclusion: Cyclin D1 immunoreactivity was identified in Schwann cell nuclei under remyelinating process in early stages of CMT1A. These results seemed similar to axonal neuropathy, and suggested that a certain signal from remyelinating axons is involved in Schwann cell proliferation. doi:10.1016/j.jns.2013.07.2435
Abstract — WCN 2013 No: 2504 Topic: 36 — Other Topic Treatable cause of relapsing encephalopathy M. Langtreea, R. Armstrongb, R. Wimalaratnac, E. Sureshd, O. Ansorgee, S.H. Wimalaratnab. aMedicine, Kettering General Hospital, Kettering, UK; b Neurology, Oxford University Hospital, Oxford, UK; cMedicine, Royal Oldham Hospital, Manchester, UK; dMedicine, Alexandra Hospital, Singapore, Singapore; eNeuropathology, Oxford University Hospital, Oxford, UK A 68 year old builder presented with a two month history of slowly progressive impairment of memory, confusion, shuffling gait and urinary incontinence. He gradually became unresponsive. On admission he was abulic and progressed to coma. Examination: Neck and limbs were rigid. Reflexes were brisk with extensor plantars. Normal funduscopy. Full neurological exam was not possible. Investigations: ESR, 77 mm CRP 250. CSF 86cells (Poly30% Lym 70%). Protein 1.2 g/l. normal glucose. Blood count and electrolytes were normal. MRI brain showed diffused white matter abnormality bilaterally suggesting leukodystrophy. Progress: Treated empirically, with IV antibiotics and Acyclovir. He began to improve. Within two weeks his MMSE was 30/30. No focal neurology. Mobilised normally. Discharged home without a definite diagnosis. Four months later he was readmitted with two weeks history of progressive confusion, shuffling gait and incontinence. He later became comatose. Family revealed that he suffered intermittent deafness and redness of pinna. CSF showed 46 cells, 58% lymphocytes. High proteins and normal glucose. MRI brain was similar to previous one and MRA showed areas of restricted diffusion with contrast enhancement. EEG was diffusely slow. Brain biopsy showed vasculitis associated with giant cells without granuloma consistent with CNS vasculitis of relapsing polychondritis. Conclusion: CNS vasculitis secondary to relapsing polychondritis. Patient was treated with steroids and remained well during the 3 year follow up without further relapse on a low dose of oral steroids. Discussion: This paper describes a serious neurological complication of a rheumatological condition. Awareness of this association will help early diagnosis and correct treatment. doi:10.1016/j.jns.2013.07.2436