The Experts below are selected from a list of 3354 Experts worldwide ranked by ideXlab platform
Nobuhiro Yuki - One of the best experts on this subject based on the ideXlab platform.
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contactin 1 igg4 associates to chronic inflammatory demyelinating polyneuropathy with Sensory Ataxia
Brain, 2015Co-Authors: Yumako Miura, Jerome Devaux, Yuki Fukami, Constance Manso, Maya Belghazi, Anna Hiu Yi Wong, Nobuhiro YukiAbstract:A Spanish group recently reported that four patients with chronic inflammatory demyelinating polyneuropathy carrying IgG4 autoantibodies against contactin 1 showed aggressive symptom onset and poor response to intravenous immunoglobulin. We aimed to describe the clinical and serological features of Japanese chronic inflammatory demyelinating polyneuropathy patients displaying the anti-contactin 1 antibodies. Thirteen of 533 (2.4%) patients with chronic inflammatory demyelinating polyneuropathy had anti-contactin 1 IgG4 whereas neither patients from disease or normal control subjects did (P = 0.02). Three of 13 (23%) patients showed subacute symptom onset, but all of the patients presented with Sensory Ataxia. Six of 10 (60%) anti-contactin 1 antibody-positive patients had poor response to intravenous immunoglobulin, whereas 8 of 11 (73%) antibody-positive patients had good response to corticosteroids. Anti-contactin 1 IgG4 antibodies are a possible biomarker to guide treatment option.
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Clinical, electrophysiological, and serological overlap between Miller Fisher syndrome and acute Sensory ataxic neuropathy.
Acta neurologica Scandinavica, 2002Co-Authors: Hideki Shimamura, Nobuhiro Yuki, Hiroyuki Miura, Y. Iwaki, T. Kubodera, Takeshi Matsuoka, Michiaki KogaAbstract:We report a patient with severe Sensory Ataxia, areflexia, and ophthalmoplegia with preservation of limb muscle strength. Electrophysiological examinations revealed peripheral Sensory nerve involvement. A serological examination showed the elevation of IgG antibodies to various b-series gangliosides as well as GT1a. These indicated that this case is an overlap between acute Sensory ataxic neuropathy and Miller Fisher syndrome. Autoantibody is implicated as potential pathogenic agents in some cases of acute Sensory ataxic neuropathy.
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acute Sensory ataxic neuropathy associated with monospecific anti gd1b igg antibody
Neurology, 2001Co-Authors: Nobuhiro Yuki, Michiaki Koga, M C Chiang, Sungtsang HsiehAbstract:The authors describe two patients with acute Sensory ataxic neuropathy. Both had a profound loss of proprioception and generalized areflexia. High titers of monospecific anti-GD1b IgG antibody were detected in their sera during the acute phase. Sensory Ataxia resolved within 2 weeks after the onset. Taken together with the induction of experimental Sensory ataxic neuropathy sensitized with GD1b ganglioside, GD1b may be a target molecule for autoantibody in some patients with acute Sensory ataxic neuropathy.
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special Sensory Ataxia in miller fisher syndrome detected by postural body sway analysis
Annals of Neurology, 1999Co-Authors: Satoshi Kuwabara, M Asahina, M Nakajima, Masahiro Mori, Toshio Fukutake, Takamichi Hattori, Nobuhiro YukiAbstract:To investigate whether Ataxia in Miller Fisher syndrome (MFS) is caused by loss of proprioception or cerebellar dysfunction, we studied the power spectrum peak of the body sway frequency in 10 MFS patients, and compared the results with those of patients with cerebellar or Sensory Ataxia. The cerebellar patients had a peak at 2.4 Hz, whereas Sensory Ataxia patients had a 1-Hz peak. Nine of the MFS patients had a distinct 1-Hz peak. Clinical Sensory loss or abnormal Sensory nerve potentials were present in only 3 patients, whereas soleus H-reflexes were absent in all the MFS patients. MFS patients have dysfunction of the proprioceptive afferent system, and the special Sensory Ataxia may be caused by the selective involvement of muscle spindle afferents.
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special Sensory Ataxia in miller fisher syndrome detected by postural body sway analysis
Annals of Neurology, 1999Co-Authors: Satoshi Kuwabara, M Asahina, M Nakajima, Masahiro Mori, Toshio Fukutake, Takamichi Hattori, Nobuhiro YukiAbstract:To investigate whether Ataxia in Miller Fisher syndrome (MFS) is caused by loss of proprioception or cerebellar dysfunction, we studied the power spectrum peak of the body sway frequency in 10 MFS patients, and compared the results with those of patients with cerebellar or Sensory Ataxia. The cerebellar patients had a peak at 2.4 Hz, whereas Sensory Ataxia patients had a 1-Hz peak. Nine of the MFS patients had a distinct 1-Hz peak. Clinical Sensory loss or abnormal Sensory nerve potentials were present in only 3 patients, whereas soleus H-reflexes were absent in all the MFS patients. MFS patients have dysfunction of the proprioceptive afferent system, and the special Sensory Ataxia may be caused by the selective involvement of muscle spindle afferents. Ann Neurol 1999;45:533–536
Haruki Koike - One of the best experts on this subject based on the ideXlab platform.
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clinicopathological features of acute autonomic and Sensory neuropathy
Brain, 2010Co-Authors: Haruki Koike, Masahisa Katsuno, Masahiro Iijima, Naoki Atsuta, Hiroaki Adachi, Takeshi Yasuda, Yasuyo Fukada, Kenichi Yasui, Kenji Nakashima, Masahiro HoriuchiAbstract:Acute autonomic and Sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and Sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients. Profound autonomic failure with various degrees of Sensory impairment characterized the neuropathic features in all patients. The initial symptoms were those related to autonomic disturbance or superficial Sensory impairment in all patients, while deep Sensory impairment accompanied by Sensory Ataxia subsequently appeared in 12 patients. The severity of Sensory Ataxia tended to become worse as the duration from the onset to the peak phase of neuropathy became longer ( P < 0.001). The distribution of Sensory manifestations included the proximal regions of the limbs, face, scalp and trunk in most patients. It tended to be asymmetrical and segmental, rather than presenting as a symmetric polyneuropathy. Pain of the involved region was a common and serious symptom. In addition to autonomic and Sensory symptoms, coughing episodes, psychiatric symptoms, sleep apnoea and aspiration, pneumonia made it difficult to manage the clinical condition. Nerve conduction studies revealed the reduction of Sensory nerve action potentials in patients with Sensory Ataxia, while it was relatively preserved in patients without Sensory Ataxia. Magnetic resonance imaging of the spinal cord revealed a high-intensity area in the posterior column on T2*-weighted gradient echo image in patients with Sensory Ataxia but not in those without it. Sural nerve biopsy revealed small-fibre predominant axonal loss without evidence of nerve regeneration. In an autopsy case with impairment of both superficial and deep sensations, we observed severe neuronal cell loss in the thoracic sympathetic and dorsal root ganglia, and Auerbach’s plexus with well preserved anterior hone cells. Myelinated fibres in the anterior spinal root were preserved, while those in the posterior spinal root and the posterior column of the spinal cord were depleted. Although recovery of Sensory impairment was poor, autonomic dysfunction was ameliorated to some degree within several months in most patients. In conclusion, an immune-mediated mechanism may be associated with acute autonomic and Sensory neuropathy. Small neuronal cells in the autonomic and Sensory ganglia may be affected in the initial phase, and subsequently, large neuronal cells in the Sensory ganglia are damaged.
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Clinicopathological features of acute autonomic and Sensory neuropathy
Brain : a journal of neurology, 2010Co-Authors: Haruki Koike, Masahisa Katsuno, Masahiro Iijima, Naoki Atsuta, Hiroaki Adachi, Takeshi Yasuda, Yasuyo Fukada, Kenichi Yasui, Kenji Nakashima, Masahiro HoriuchiAbstract:Acute autonomic and Sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and Sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients. Profound autonomic failure with various degrees of Sensory impairment characterized the neuropathic features in all patients. The initial symptoms were those related to autonomic disturbance or superficial Sensory impairment in all patients, while deep Sensory impairment accompanied by Sensory Ataxia subsequently appeared in 12 patients. The severity of Sensory Ataxia tended to become worse as the duration from the onset to the peak phase of neuropathy became longer (P
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ataxic vs painful form of paraneoplastic neuropathy
Neurology, 2007Co-Authors: Haruki Koike, Keiko Mori, Naoki Hattori, Masaaki Hirayama, Masahisa Katsuno, Fumiaki Tanaka, M Shiraishi, Masahiro Iijima, Tomohiko Nakamura, S YazakiAbstract:OBJECTIVE: To characterize the clinicopathologic features of ataxic and painful forms of paraneoplastic neuropathy. METHODS: Clinical, electrophysiologic, and histopathologic findings were assessed in 17 patients with paraneoplastic neuropathy. RESULTS: Clinical features can be categorized into two groups: one group (13 patients) with predominantly deep Sensory disturbance and a second group (4 patients) with predominantly superficial Sensory disturbance. The former group showed severe Sensory Ataxia and predominantly large myelinated fiber loss in the sural nerve. The latter group showed marked pain, in particular, severe mechanical hyperalgesia, and predominantly small myelinated and unmyelinated fiber loss. Nerve conduction assessment indicated an axonal neuropathy pattern in both groups, while Sensory action potentials were more markedly diminished in the Sensory ataxic form. Anti-Hu antibodies were detected in half of the patients in both groups. Treatment for cancer was effective to improve or stabilize neuropathic symptoms in some cases from both groups. Immunotherapy was effective only for a short time. CONCLUSIONS: Paraneoplastic neuropathy can be characterized into two groups by the presence of Sensory Ataxia or severe spontaneous pain and severe mechanical hyperalgesia. Preferential small myelinated and unmyelinated fiber loss correlated to the cases of severe pain.
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intravenous immunoglobulin treatment in painful Sensory neuropathy without Sensory Ataxia associated with sjogren s syndrome
Journal of Neurology Neurosurgery and Psychiatry, 2006Co-Authors: M Kizawa, Haruki Koike, Keiko Mori, Masahiro Iijima, Nobutaka Hattori, Gen SobueAbstract:Patients having neuropathy associated with Sjogren's syndrome may present with pain and superficial Sensory involvement in the absence of Sensory Ataxia. Treatment for this form of associated neuropathy has not been established. The case of a patient with painful Sensory neuropathy associated with Sjogren's syndrome, whose symptoms, particularly pain, responded well to intravenous immunoglobulin both at onset and in a relapse, is reported. Other patients with painful Sensory neuropathy associated with Sjogren's syndrome may also be candidates for intravenous Ig treatment.
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Intravenous immunoglobulin treatment in painful Sensory neuropathy without Sensory Ataxia associated with Sjögren’s syndrome
Journal of neurology neurosurgery and psychiatry, 2006Co-Authors: M Kizawa, Haruki Koike, Keiko Mori, Masahiro Iijima, Nobutaka Hattori, SobueAbstract:Patients having neuropathy associated with Sjogren's syndrome may present with pain and superficial Sensory involvement in the absence of Sensory Ataxia. Treatment for this form of associated neuropathy has not been established. The case of a patient with painful Sensory neuropathy associated with Sjogren's syndrome, whose symptoms, particularly pain, responded well to intravenous immunoglobulin both at onset and in a relapse, is reported. Other patients with painful Sensory neuropathy associated with Sjogren's syndrome may also be candidates for intravenous Ig treatment.
Keiko Mori - One of the best experts on this subject based on the ideXlab platform.
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ataxic vs painful form of paraneoplastic neuropathy
Neurology, 2007Co-Authors: Haruki Koike, Keiko Mori, Naoki Hattori, Masaaki Hirayama, Masahisa Katsuno, Fumiaki Tanaka, M Shiraishi, Masahiro Iijima, Tomohiko Nakamura, S YazakiAbstract:OBJECTIVE: To characterize the clinicopathologic features of ataxic and painful forms of paraneoplastic neuropathy. METHODS: Clinical, electrophysiologic, and histopathologic findings were assessed in 17 patients with paraneoplastic neuropathy. RESULTS: Clinical features can be categorized into two groups: one group (13 patients) with predominantly deep Sensory disturbance and a second group (4 patients) with predominantly superficial Sensory disturbance. The former group showed severe Sensory Ataxia and predominantly large myelinated fiber loss in the sural nerve. The latter group showed marked pain, in particular, severe mechanical hyperalgesia, and predominantly small myelinated and unmyelinated fiber loss. Nerve conduction assessment indicated an axonal neuropathy pattern in both groups, while Sensory action potentials were more markedly diminished in the Sensory ataxic form. Anti-Hu antibodies were detected in half of the patients in both groups. Treatment for cancer was effective to improve or stabilize neuropathic symptoms in some cases from both groups. Immunotherapy was effective only for a short time. CONCLUSIONS: Paraneoplastic neuropathy can be characterized into two groups by the presence of Sensory Ataxia or severe spontaneous pain and severe mechanical hyperalgesia. Preferential small myelinated and unmyelinated fiber loss correlated to the cases of severe pain.
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intravenous immunoglobulin treatment in painful Sensory neuropathy without Sensory Ataxia associated with sjogren s syndrome
Journal of Neurology Neurosurgery and Psychiatry, 2006Co-Authors: M Kizawa, Haruki Koike, Keiko Mori, Masahiro Iijima, Nobutaka Hattori, Gen SobueAbstract:Patients having neuropathy associated with Sjogren's syndrome may present with pain and superficial Sensory involvement in the absence of Sensory Ataxia. Treatment for this form of associated neuropathy has not been established. The case of a patient with painful Sensory neuropathy associated with Sjogren's syndrome, whose symptoms, particularly pain, responded well to intravenous immunoglobulin both at onset and in a relapse, is reported. Other patients with painful Sensory neuropathy associated with Sjogren's syndrome may also be candidates for intravenous Ig treatment.
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Intravenous immunoglobulin treatment in painful Sensory neuropathy without Sensory Ataxia associated with Sjögren’s syndrome
Journal of neurology neurosurgery and psychiatry, 2006Co-Authors: M Kizawa, Haruki Koike, Keiko Mori, Masahiro Iijima, Nobutaka Hattori, SobueAbstract:Patients having neuropathy associated with Sjogren's syndrome may present with pain and superficial Sensory involvement in the absence of Sensory Ataxia. Treatment for this form of associated neuropathy has not been established. The case of a patient with painful Sensory neuropathy associated with Sjogren's syndrome, whose symptoms, particularly pain, responded well to intravenous immunoglobulin both at onset and in a relapse, is reported. Other patients with painful Sensory neuropathy associated with Sjogren's syndrome may also be candidates for intravenous Ig treatment.
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Sjögren’s syndrome associated painful Sensory neuropathy without Sensory Ataxia
Journal of neurology neurosurgery and psychiatry, 2003Co-Authors: Keiko Mori, Haruki Koike, Masaaki Hirayama, Masahiro Iijima, Makoto Sugiura, Nobutaka Hattori, Hidefumi Ito, SobueAbstract:Sensory neuropathy with prominent Ataxia reflecting kinesthetic Sensory impairment is a well recognised form of neuropathy associated with Sjogren’s syndrome.1–4 Pathologically, T cell invasion of dorsal root ganglia, loss of large Sensory neurons, and secondary large fibre degeneration is seen in this neuropathy.4 However, a form of neuropathy associated with Sjogren’s syndrome, presenting with pain and superficial Sensory involvement without Sensory Ataxia has been described anecdotally5 and in a case report.6 Clinicopathological details of the second form of neuropathy have not been elucidated. In this report we describe seven patients with Sjogren’s syndrome showing painful Sensory neuropathy without Sensory Ataxia. Patients studied were referred for painful neuropathy to Nagoya University Hospital and its affiliated institutions. All seven patients fulfilled diagnostic criteria for Sjogren’s syndrome by the American-European Consensus Group7 and showed painful peripheral neuropathy (table 1). Patients included six women and one man, ranging from 25 to 72 years old. In all patients initial symptom of neuropathy was paraesthesia or painful dysaesthesia in the most distal portions of the extremities, later extending proximally to involve the entire legs and arms. The trunk became involved in three patients, and the trigeminal nerve was impaired in three patients. Asymmetry in Sensory impairment was present in four patients. None of the patients showed Sensory Ataxia in the initial phase. Most patients retained essentially normal muscle strength, but patient 1 showed slight weakness in distal limb muscles. …
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sjogren s syndrome associated painful Sensory neuropathy without Sensory Ataxia
Journal of Neurology Neurosurgery and Psychiatry, 2003Co-Authors: Keiko Mori, Haruki Koike, Masaaki Hirayama, Masahiro Iijima, Makoto Sugiura, Nobutaka Hattori, Hidefumi Ito, Gen SobueAbstract:Sensory neuropathy with prominent Ataxia reflecting kinesthetic Sensory impairment is a well recognised form of neuropathy associated with Sjogren’s syndrome.1–4 Pathologically, T cell invasion of dorsal root ganglia, loss of large Sensory neurons, and secondary large fibre degeneration is seen in this neuropathy.4 However, a form of neuropathy associated with Sjogren’s syndrome, presenting with pain and superficial Sensory involvement without Sensory Ataxia has been described anecdotally5 and in a case report.6 Clinicopathological details of the second form of neuropathy have not been elucidated. In this report we describe seven patients with Sjogren’s syndrome showing painful Sensory neuropathy without Sensory Ataxia. Patients studied were referred for painful neuropathy to Nagoya University Hospital and its affiliated institutions. All seven patients fulfilled diagnostic criteria for Sjogren’s syndrome by the American-European Consensus Group7 and showed painful peripheral neuropathy (table 1). Patients included six women and one man, ranging from 25 to 72 years old. In all patients initial symptom of neuropathy was paraesthesia or painful dysaesthesia in the most distal portions of the extremities, later extending proximally to involve the entire legs and arms. The trunk became involved in three patients, and the trigeminal nerve was impaired in three patients. Asymmetry in Sensory impairment was present in four patients. None of the patients showed Sensory Ataxia in the initial phase. Most patients retained essentially normal muscle strength, but patient 1 showed slight weakness in distal limb muscles. …
Masahiro Iijima - One of the best experts on this subject based on the ideXlab platform.
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clinicopathological features of acute autonomic and Sensory neuropathy
Brain, 2010Co-Authors: Haruki Koike, Masahisa Katsuno, Masahiro Iijima, Naoki Atsuta, Hiroaki Adachi, Takeshi Yasuda, Yasuyo Fukada, Kenichi Yasui, Kenji Nakashima, Masahiro HoriuchiAbstract:Acute autonomic and Sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and Sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients. Profound autonomic failure with various degrees of Sensory impairment characterized the neuropathic features in all patients. The initial symptoms were those related to autonomic disturbance or superficial Sensory impairment in all patients, while deep Sensory impairment accompanied by Sensory Ataxia subsequently appeared in 12 patients. The severity of Sensory Ataxia tended to become worse as the duration from the onset to the peak phase of neuropathy became longer ( P < 0.001). The distribution of Sensory manifestations included the proximal regions of the limbs, face, scalp and trunk in most patients. It tended to be asymmetrical and segmental, rather than presenting as a symmetric polyneuropathy. Pain of the involved region was a common and serious symptom. In addition to autonomic and Sensory symptoms, coughing episodes, psychiatric symptoms, sleep apnoea and aspiration, pneumonia made it difficult to manage the clinical condition. Nerve conduction studies revealed the reduction of Sensory nerve action potentials in patients with Sensory Ataxia, while it was relatively preserved in patients without Sensory Ataxia. Magnetic resonance imaging of the spinal cord revealed a high-intensity area in the posterior column on T2*-weighted gradient echo image in patients with Sensory Ataxia but not in those without it. Sural nerve biopsy revealed small-fibre predominant axonal loss without evidence of nerve regeneration. In an autopsy case with impairment of both superficial and deep sensations, we observed severe neuronal cell loss in the thoracic sympathetic and dorsal root ganglia, and Auerbach’s plexus with well preserved anterior hone cells. Myelinated fibres in the anterior spinal root were preserved, while those in the posterior spinal root and the posterior column of the spinal cord were depleted. Although recovery of Sensory impairment was poor, autonomic dysfunction was ameliorated to some degree within several months in most patients. In conclusion, an immune-mediated mechanism may be associated with acute autonomic and Sensory neuropathy. Small neuronal cells in the autonomic and Sensory ganglia may be affected in the initial phase, and subsequently, large neuronal cells in the Sensory ganglia are damaged.
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Clinicopathological features of acute autonomic and Sensory neuropathy
Brain : a journal of neurology, 2010Co-Authors: Haruki Koike, Masahisa Katsuno, Masahiro Iijima, Naoki Atsuta, Hiroaki Adachi, Takeshi Yasuda, Yasuyo Fukada, Kenichi Yasui, Kenji Nakashima, Masahiro HoriuchiAbstract:Acute autonomic and Sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and Sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients. Profound autonomic failure with various degrees of Sensory impairment characterized the neuropathic features in all patients. The initial symptoms were those related to autonomic disturbance or superficial Sensory impairment in all patients, while deep Sensory impairment accompanied by Sensory Ataxia subsequently appeared in 12 patients. The severity of Sensory Ataxia tended to become worse as the duration from the onset to the peak phase of neuropathy became longer (P
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ataxic vs painful form of paraneoplastic neuropathy
Neurology, 2007Co-Authors: Haruki Koike, Keiko Mori, Naoki Hattori, Masaaki Hirayama, Masahisa Katsuno, Fumiaki Tanaka, M Shiraishi, Masahiro Iijima, Tomohiko Nakamura, S YazakiAbstract:OBJECTIVE: To characterize the clinicopathologic features of ataxic and painful forms of paraneoplastic neuropathy. METHODS: Clinical, electrophysiologic, and histopathologic findings were assessed in 17 patients with paraneoplastic neuropathy. RESULTS: Clinical features can be categorized into two groups: one group (13 patients) with predominantly deep Sensory disturbance and a second group (4 patients) with predominantly superficial Sensory disturbance. The former group showed severe Sensory Ataxia and predominantly large myelinated fiber loss in the sural nerve. The latter group showed marked pain, in particular, severe mechanical hyperalgesia, and predominantly small myelinated and unmyelinated fiber loss. Nerve conduction assessment indicated an axonal neuropathy pattern in both groups, while Sensory action potentials were more markedly diminished in the Sensory ataxic form. Anti-Hu antibodies were detected in half of the patients in both groups. Treatment for cancer was effective to improve or stabilize neuropathic symptoms in some cases from both groups. Immunotherapy was effective only for a short time. CONCLUSIONS: Paraneoplastic neuropathy can be characterized into two groups by the presence of Sensory Ataxia or severe spontaneous pain and severe mechanical hyperalgesia. Preferential small myelinated and unmyelinated fiber loss correlated to the cases of severe pain.
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intravenous immunoglobulin treatment in painful Sensory neuropathy without Sensory Ataxia associated with sjogren s syndrome
Journal of Neurology Neurosurgery and Psychiatry, 2006Co-Authors: M Kizawa, Haruki Koike, Keiko Mori, Masahiro Iijima, Nobutaka Hattori, Gen SobueAbstract:Patients having neuropathy associated with Sjogren's syndrome may present with pain and superficial Sensory involvement in the absence of Sensory Ataxia. Treatment for this form of associated neuropathy has not been established. The case of a patient with painful Sensory neuropathy associated with Sjogren's syndrome, whose symptoms, particularly pain, responded well to intravenous immunoglobulin both at onset and in a relapse, is reported. Other patients with painful Sensory neuropathy associated with Sjogren's syndrome may also be candidates for intravenous Ig treatment.
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Intravenous immunoglobulin treatment in painful Sensory neuropathy without Sensory Ataxia associated with Sjögren’s syndrome
Journal of neurology neurosurgery and psychiatry, 2006Co-Authors: M Kizawa, Haruki Koike, Keiko Mori, Masahiro Iijima, Nobutaka Hattori, SobueAbstract:Patients having neuropathy associated with Sjogren's syndrome may present with pain and superficial Sensory involvement in the absence of Sensory Ataxia. Treatment for this form of associated neuropathy has not been established. The case of a patient with painful Sensory neuropathy associated with Sjogren's syndrome, whose symptoms, particularly pain, responded well to intravenous immunoglobulin both at onset and in a relapse, is reported. Other patients with painful Sensory neuropathy associated with Sjogren's syndrome may also be candidates for intravenous Ig treatment.
Nicolas Dupré - One of the best experts on this subject based on the ideXlab platform.
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a point mutation in the ubiquitin ligase rnf170 that causes autosomal dominant Sensory Ataxia destabilizes the protein and impairs inositol 1 4 5 trisphosphate receptor mediated ca2 signaling
Journal of Biological Chemistry, 2015Co-Authors: Forrest A Wright, Nicolas Dupré, Guy A. Rouleau, Justine P Lu, Danielle A Sliter, Richard J H WojcikiewiczAbstract:Abstract RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and that also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant Sensory Ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. Here we demonstrate that this point mutation inhibits RNF170 expression and signaling via IP3 receptors. Inhibited expression of mutant RNF170 was seen in cells expressing exogenous RNF170 constructs and in ADSA lymphoblasts, and appears to result from enhanced RNF170 autoubiquitination and proteasomal degradation. The basis for these effects was probed via additional point mutations, revealing that ionic interactions between charged residues in the transmembrane domains of RNF170 are required for protein stability. In ADSA lymphoblasts, platelet-activating factor-induced Ca2+ mobilization was significantly impaired, while neither Ca2+ store content, IP3 receptor levels, nor IP3 production were altered, indicative of a functional defect at the IP3 receptor locus, which may be the cause of neurodegeneration. CRISPR/Cas9-mediated genetic deletion of RNF170 showed that RNF170 mediates the addition of all of the ubiquitin conjugates known to become attached to activated IP3 receptors (monoubiquitin and Lys-48- and Lys-63-linked ubiquitin chains), and that wild-type and mutant RNF170 have apparently identical ubiquitin ligase activities towards IP3 receptors. Thus, the Ca2+ mobilization defect seen in ADSA lymphoblasts is apparently not due to aberrant IP3 receptor ubiquitination. Rather, the defect likely reflects abnormal ubiquitination of other substrates, or adaptation to the chronic reduction in RNF170 levels.
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a point mutation in the ubiquitin ligase rnf170 that causes autosomal dominant Sensory Ataxia destabilizes the protein and impairs inositol 1 4 5 trisphosphate receptor mediated ca2 signaling
Journal of Biological Chemistry, 2015Co-Authors: Forrest A Wright, Nicolas Dupré, Guy A. Rouleau, Danielle A Sliter, Richard J H WojcikiewiczAbstract:RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant Sensory Ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. Here we demonstrate that this point mutation inhibits RNF170 expression and signaling via IP3 receptors. Inhibited expression of mutant RNF170 was seen in cells expressing exogenous RNF170 constructs and in ADSA lymphoblasts, and appears to result from enhanced RNF170 autoubiquitination and proteasomal degradation. The basis for these effects was probed via additional point mutations, revealing that ionic interactions between charged residues in the transmembrane domains of RNF170 are required for protein stability. In ADSA lymphoblasts, platelet-activating factor-induced Ca(2+) mobilization was significantly impaired, whereas neither Ca(2+) store content, IP3 receptor levels, nor IP3 production were altered, indicative of a functional defect at the IP3 receptor locus, which may be the cause of neurodegeneration. CRISPR/Cas9-mediated genetic deletion of RNF170 showed that RNF170 mediates the addition of all of the ubiquitin conjugates known to become attached to activated IP3 receptors (monoubiquitin and Lys(48)- and Lys(63)-linked ubiquitin chains), and that wild-type and mutant RNF170 have apparently identical ubiquitin ligase activities toward IP3 receptors. Thus, the Ca(2+) mobilization defect seen in ADSA lymphoblasts is apparently not due to aberrant IP3 receptor ubiquitination. Rather, the defect likely reflects abnormal ubiquitination of other substrates, or adaptation to the chronic reduction in RNF170 levels.
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A Mutation in the RNF170 Gene Causes Autosomal Dominant Sensory Ataxia (P05.014)
Neurology, 2012Co-Authors: Nicolas Dupré, Paul N. Valdmanis, Shawn J. Stochmanski, Veronique V. Belzil, Patrick A. Dion, Isabelle Thiffault, Bernard Brais, Lyle Weston, Louis Saint-amant, Mark E. SamuelsAbstract:Objective: Identify the gene defect caused by a new disease entity called autosomal dominant Sensory Ataxia. Background Autosomal dominant Sensory Ataxia is a rare genetic condition that results in a progressive Ataxia that is caused by degeneration of the posterior columns of the spinal cord. To date only two families have been clinically ascertained with this condition, both from Maritime Canada. Design/Methods: We previously mapped both families to chromosome 8p12-8q12 and have now screened the majority of annotated protein-coding genes in the shared haplotype region by direct DNA sequencing. Results: We have identified a putative pathogenic mutation in the gene encoding ring-finger protein RNF170, a potential ubiquitin ligase. This mutation is a rare non-synonymous change in a well-conserved residue and is predicted to be pathogenic by SIFT, PolyPhen, PANTHER and Align-GVD. Microinjection of wild-type or mutant orthologous messenger RNAs into zebrafish (Danio rerio) embryos confirmed that the mutation dominantly disrupts normal embryonic development. Conclusions: Together these results suggest that the mutation in RNF170 is causal for the Sensory Ataxia in these families. Supported by: Canadian Institutes of Health Research (to P.N.V., V.V.B., I.T., N.D. and G.A.R.); Genome Atlantic; Genome Canada; the Nova Scotia Health Research Foundation; the Nova Scotia Research and Innovation Trust; the Capital Health Research Foundation; the IWK Health Centre Foundation (to M.E.S.). Disclosure: Dr. Dupre has nothing to disclose. Dr. Valdmanis has nothing to disclose. Dr. Stochmanski has nothing to disclose. Dr. Belzil has nothing to disclose. Dr. Dion has nothing to disclose. Dr. Thiffault has nothing to disclose. Dr. Brais has nothing to disclose. Dr. Weston has nothing to disclose. Dr. Saint-Amant has nothing to disclose. Dr. Samuels has nothing to disclose. Dr. Rouleau has nothing to disclose.
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A mutation in the RNF170 gene causes autosomal dominant Sensory Ataxia
Brain, 2010Co-Authors: Paul N. Valdmanis, Nicolas Dupré, Mathieu Lachance, Shawn J. Stochmanski, Veronique V. Belzil, Patrick A. Dion, Isabelle Thiffault, Bernard Brais, Lyle Weston, Louis Saint-amantAbstract:Autosomal dominant Sensory Ataxia is a rare genetic condition that results in a progressive Ataxia that is caused by degeneration of the posterior columns of the spinal cord. To date only two families have been clinically ascertained with this condition, both from Maritime Canada. We previously mapped both families to chromosome 8p12-8q12 and have now screened the majority of annotated protein-coding genes in the shared haplotype region by direct DNA sequencing. We have identified a putative pathogenic mutation in the gene encoding ring-finger protein RNF170, a potential ubiquitin ligase. This mutation is a rare non-synonymous change in a well-conserved residue and is predicted to be pathogenic by SIFT, PolyPhen, PANTHER and Align-GVD. Microinjection of wild-type or mutant orthologous messenger RNAs into zebrafish (Danio rerio) embryos confirmed that the mutation dominantly disrupts normal embryonic development. Together these results suggest that the mutation in RNF170 is causal for the Sensory Ataxia in these families.
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Autosomal dominant Sensory Ataxia: a neuroaxonal dystrophy
Acta Neuropathologica, 2008Co-Authors: Jeremy J. Moeller, Paul N. Valdmanis, Guy A. Rouleau, Robert J. B. Macaulay, Lyle E. Weston, Nicolas DupréAbstract:Autosomal dominant Sensory Ataxia (ADSA), a rare hereditary Ataxia, is characterized by progressive dysfunction of central Sensory pathways. Its pathological features have not been previously documented. We report a case of a 61-year-old man with ADSA who died of congestive heart failure. Autopsy specimens of brain, thoracolumbar spinal cord, peripheral nerve and skeletal muscle were examined. There was no abnormality on gross examination. Microscopically, there were occasional swollen axons within the cerebral cortex and deep nuclei, particularly the subthalamic nucleus, with no neuronal loss, gliosis or microglial activation. There were many axonal spheroids within the medulla, particularly in the dorsal column nuclei. Axonal spheroids were also seen in the dorsal columns and ventral horns in the thoracolumbar spinal cord, but there was no Wallerian degeneration or demyelination. Amyloid precursor protein (APP) immunostaining of some of the spheroids suggested continuing dysfunction of axoplasmic flow in some regions. There was mild inflammation of peripheral nerve roots but no spheroid, and patchy chronic inflammation of skeletal muscle. In summary, the major pathological process in ADSA is a neuroaxonal dystrophy most prominent in the dorsal columns and dorsal column nuclei, consistent with the clinical pattern of central Sensory pathway degeneration.
