The Experts below are selected from a list of 309 Experts worldwide ranked by ideXlab platform
Chantal M E Tallaksen - One of the best experts on this subject based on the ideXlab platform.
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ataxia with vitamin e deficiency in southeast norway case report
Acta Neurologica Scandinavica, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Background - Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Methods -Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. Aims - To report a subject with ataxia due to vitamin E deficiency in Norway. Results - One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and Vibration Sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the α-tocopherol transport protein gene on chromosome 8q13. Discussion - Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. Conclusion - AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway.
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Ataxia with vitamin E deficiency in southeast Norway, case report
Acta neurologica Scandinavica. Supplementum, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. To report a subject with ataxia due to vitamin E deficiency in Norway. One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and Vibration Sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the alpha-tocopherol transport protein gene on chromosome 8q13. Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway.
Henk J Coert - One of the best experts on this subject based on the ideXlab platform.
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development of grading scales of pedal sensory loss using mokken scale analysis on the rotterdam diabetic foot study test battery data
Muscle & Nerve, 2019Co-Authors: Willem D Rinkel, Hosein M Aziz, Johan W Van Neck, Manuel Castro Cabezas, Henk J CoertAbstract:Introduction: Loss of sensation due to diabetes-related neuropathy often leads to diabetic foot ulceration. Several test instruments are used to assess sensation, such as static and moving 2-point discrimination (S2PD, M2PD), monofilaments, and tuning forks. Methods: Mokken scale analysis was applied to the Rotterdam Diabetic Foot Study data to select hierarchies of tests to construct measurement scales. Results: We developed 39-item and 31-item scales to measure loss of sensation for research purposes and a 13-item scale for clinical practice. All instruments were strongly scalable and reliable. The 39 items can be classified into 5 hierarchically ordered core clusters: S2PD, M2PD, Vibration Sense, monofilaments, and prior ulcer or amputation. Discussion: Guided by the presented scales, clinicians may better classify the grade of sensory loss in diabetic patients’ feet. Thus, a more personalized approach concerning individual recommendations, intervention strategies, and patient information may be applied.
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grading the loss of sensation in diabetic patients a psychometric evaluation of the rotterdam diabetic foot study test battery
Muscle & Nerve, 2018Co-Authors: Willem D Rinkel, Hosein M Aziz, Manuel Castro Cabezas, Henk J Coert, Dimitris Rizopoulos, Johan W Van NeckAbstract:Introduction: Static- and moving 2-point discrimination (S2PD, M2PD), 10-g monofilaments- and tuning fork are validated outcome measures of clinical manifestations of diabetes-related neuropathy. No modern statistical techniques have been used to investigate how well these instruments combine to measure sensory loss. Methods: To grade sensory loss at the feet, we fitted parametric forms of Item Response Theory models to the data of these instruments. Results: The fit statistics indicate that the loss of sensation is gradable, with readily available instruments. S2PD and M2PD are lost first, followed by Vibration Sense, the 10-g monofilament and the ability to feel a cold stimulus. Conclusions: This test battery appears to provide sound measurement properties in a group of diabetic patients with diverse amounts of sensory loss. This approach may be used in clinical practice to grade sensory loss reliably and quickly, with instruments that are easy to use. Muscle Nerve 58: 559–565, 2018.
Willem D Rinkel - One of the best experts on this subject based on the ideXlab platform.
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development of grading scales of pedal sensory loss using mokken scale analysis on the rotterdam diabetic foot study test battery data
Muscle & Nerve, 2019Co-Authors: Willem D Rinkel, Hosein M Aziz, Johan W Van Neck, Manuel Castro Cabezas, Henk J CoertAbstract:Introduction: Loss of sensation due to diabetes-related neuropathy often leads to diabetic foot ulceration. Several test instruments are used to assess sensation, such as static and moving 2-point discrimination (S2PD, M2PD), monofilaments, and tuning forks. Methods: Mokken scale analysis was applied to the Rotterdam Diabetic Foot Study data to select hierarchies of tests to construct measurement scales. Results: We developed 39-item and 31-item scales to measure loss of sensation for research purposes and a 13-item scale for clinical practice. All instruments were strongly scalable and reliable. The 39 items can be classified into 5 hierarchically ordered core clusters: S2PD, M2PD, Vibration Sense, monofilaments, and prior ulcer or amputation. Discussion: Guided by the presented scales, clinicians may better classify the grade of sensory loss in diabetic patients’ feet. Thus, a more personalized approach concerning individual recommendations, intervention strategies, and patient information may be applied.
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grading the loss of sensation in diabetic patients a psychometric evaluation of the rotterdam diabetic foot study test battery
Muscle & Nerve, 2018Co-Authors: Willem D Rinkel, Hosein M Aziz, Manuel Castro Cabezas, Henk J Coert, Dimitris Rizopoulos, Johan W Van NeckAbstract:Introduction: Static- and moving 2-point discrimination (S2PD, M2PD), 10-g monofilaments- and tuning fork are validated outcome measures of clinical manifestations of diabetes-related neuropathy. No modern statistical techniques have been used to investigate how well these instruments combine to measure sensory loss. Methods: To grade sensory loss at the feet, we fitted parametric forms of Item Response Theory models to the data of these instruments. Results: The fit statistics indicate that the loss of sensation is gradable, with readily available instruments. S2PD and M2PD are lost first, followed by Vibration Sense, the 10-g monofilament and the ability to feel a cold stimulus. Conclusions: This test battery appears to provide sound measurement properties in a group of diabetic patients with diverse amounts of sensory loss. This approach may be used in clinical practice to grade sensory loss reliably and quickly, with instruments that are easy to use. Muscle Nerve 58: 559–565, 2018.
Jeanette Koht - One of the best experts on this subject based on the ideXlab platform.
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ataxia with vitamin e deficiency in southeast norway case report
Acta Neurologica Scandinavica, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Background - Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Methods -Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. Aims - To report a subject with ataxia due to vitamin E deficiency in Norway. Results - One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and Vibration Sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the α-tocopherol transport protein gene on chromosome 8q13. Discussion - Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. Conclusion - AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway.
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Ataxia with vitamin E deficiency in southeast Norway, case report
Acta neurologica Scandinavica. Supplementum, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. To report a subject with ataxia due to vitamin E deficiency in Norway. One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and Vibration Sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the alpha-tocopherol transport protein gene on chromosome 8q13. Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway.
Ellen Jørum - One of the best experts on this subject based on the ideXlab platform.
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ataxia with vitamin e deficiency in southeast norway case report
Acta Neurologica Scandinavica, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Background - Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Methods -Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. Aims - To report a subject with ataxia due to vitamin E deficiency in Norway. Results - One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and Vibration Sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the α-tocopherol transport protein gene on chromosome 8q13. Discussion - Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. Conclusion - AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway.
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Ataxia with vitamin E deficiency in southeast Norway, case report
Acta neurologica Scandinavica. Supplementum, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. To report a subject with ataxia due to vitamin E deficiency in Norway. One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and Vibration Sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the alpha-tocopherol transport protein gene on chromosome 8q13. Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway.
