The Experts below are selected from a list of 7221 Experts worldwide ranked by ideXlab platform
John K. Fink - One of the best experts on this subject based on the ideXlab platform.
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De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
Archives of Neurology, 2006Co-Authors: Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K. FinkAbstract:Background Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. Objective To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. Methods The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. Seventeen microsatellite polymorphisms were amplified and analyzed to confirm reported paternity. Results We identified a novel SPG3A mutation (L157W) in the proband and her affected child. This mutation was absent in the proband's unaffected parents. Results of microsatellite polymorphism analysis were consistent with paternity as reported. These results indicate that this novel SPG3A mutation arose de novo in the proband. Conclusions We report the de novo occurrence of a novel SPG3A mutation in a subject with childhood-onset, nonprogressive, spastic Diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Although rare, the occurrence of a de novo hereditary spastic paraplegia gene mutation must be considered in subjects with spastic diplegic cerebral palsy for whom no other cause is identified. This is extremely important for correct genetic counseling because recurrence risk may be as high as 50% when a mutation is detected.
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de novo occurrence of novel spg3a atlastin mutation presenting as cerebral palsy
JAMA Neurology, 2006Co-Authors: Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K. FinkAbstract:Background Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. Objective To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. Methods The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. Seventeen microsatellite polymorphisms were amplified and analyzed to confirm reported paternity. Results We identified a novel SPG3A mutation (L157W) in the proband and her affected child. This mutation was absent in the proband's unaffected parents. Results of microsatellite polymorphism analysis were consistent with paternity as reported. These results indicate that this novel SPG3A mutation arose de novo in the proband. Conclusions We report the de novo occurrence of a novel SPG3A mutation in a subject with childhood-onset, nonprogressive, spastic Diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Although rare, the occurrence of a de novo hereditary spastic paraplegia gene mutation must be considered in subjects with spastic diplegic cerebral palsy for whom no other cause is identified. This is extremely important for correct genetic counseling because recurrence risk may be as high as 50% when a mutation is detected.
Helga Hirschfeld - One of the best experts on this subject based on the ideXlab platform.
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Reach performance and postural adjustments in children with severe spastic Diplegia wearing Dafos
2007Co-Authors: Annika Näslund, Gunnevi Sundelin, Helga HirschfeldAbstract:Reach performance and postural adjustments in children with severe spastic Diplegia wearing Dafos
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Postural adjustments during reaching in chhildren with severe spastic Diplegia wearing dafos
2007Co-Authors: Annika Näslund, Gunnevi Sundelin, Helga HirschfeldAbstract:Postural adjustments during reaching in chhildren with severe spastic Diplegia wearing dafos
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Initiation of reaching when standing with and without DAFOs in children with spastic Diplegia
Advances in Physiotherapy, 2005Co-Authors: Kristina Jesinkey, Annika Näslund, Helga HirschfeldAbstract:We investigated whether the use of dynamic ankle foot orthoses (DAFOs) can improve the coordination between standing posture and a reaching movement. We investigated the temporal sequence between onset of center of pressure (CoP) displacement and onset of hand displacement by means of two AMTI force plates and a two-camera optoelectronic system (ELITE). The task was to reach for a cup. Reflective markers were placed on hand, trunk and the cup. Four children with spastic Diplegia and eight control children (aged 5–12) participated. They were tested wearing DAFOs (Diplegia) and the results were compared with wearing shoes (Diplegia and control). The children with spastic Diplegia were able to make use of anticipatory changes in CoP displacement. The results indicated that more trials in children with spastic Diplegia had CoP onset preceding hand onset while wearing DAFOs (18/20) than when wearing only shoes. More trials (27/40) during the 20% reaching condition in the control group had CoP onset preceding h...
Shirley Rainier - One of the best experts on this subject based on the ideXlab platform.
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De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
Archives of Neurology, 2006Co-Authors: Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K. FinkAbstract:Background Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. Objective To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. Methods The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. Seventeen microsatellite polymorphisms were amplified and analyzed to confirm reported paternity. Results We identified a novel SPG3A mutation (L157W) in the proband and her affected child. This mutation was absent in the proband's unaffected parents. Results of microsatellite polymorphism analysis were consistent with paternity as reported. These results indicate that this novel SPG3A mutation arose de novo in the proband. Conclusions We report the de novo occurrence of a novel SPG3A mutation in a subject with childhood-onset, nonprogressive, spastic Diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Although rare, the occurrence of a de novo hereditary spastic paraplegia gene mutation must be considered in subjects with spastic diplegic cerebral palsy for whom no other cause is identified. This is extremely important for correct genetic counseling because recurrence risk may be as high as 50% when a mutation is detected.
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de novo occurrence of novel spg3a atlastin mutation presenting as cerebral palsy
JAMA Neurology, 2006Co-Authors: Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K. FinkAbstract:Background Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. Objective To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. Methods The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. Seventeen microsatellite polymorphisms were amplified and analyzed to confirm reported paternity. Results We identified a novel SPG3A mutation (L157W) in the proband and her affected child. This mutation was absent in the proband's unaffected parents. Results of microsatellite polymorphism analysis were consistent with paternity as reported. These results indicate that this novel SPG3A mutation arose de novo in the proband. Conclusions We report the de novo occurrence of a novel SPG3A mutation in a subject with childhood-onset, nonprogressive, spastic Diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Although rare, the occurrence of a de novo hereditary spastic paraplegia gene mutation must be considered in subjects with spastic diplegic cerebral palsy for whom no other cause is identified. This is extremely important for correct genetic counseling because recurrence risk may be as high as 50% when a mutation is detected.
Annika Näslund - One of the best experts on this subject based on the ideXlab platform.
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Reach performance and postural adjustments in children with severe spastic Diplegia wearing Dafos
2007Co-Authors: Annika Näslund, Gunnevi Sundelin, Helga HirschfeldAbstract:Reach performance and postural adjustments in children with severe spastic Diplegia wearing Dafos
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Postural adjustments during reaching in chhildren with severe spastic Diplegia wearing dafos
2007Co-Authors: Annika Näslund, Gunnevi Sundelin, Helga HirschfeldAbstract:Postural adjustments during reaching in chhildren with severe spastic Diplegia wearing dafos
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Initiation of reaching when standing with and without DAFOs in children with spastic Diplegia
Advances in Physiotherapy, 2005Co-Authors: Kristina Jesinkey, Annika Näslund, Helga HirschfeldAbstract:We investigated whether the use of dynamic ankle foot orthoses (DAFOs) can improve the coordination between standing posture and a reaching movement. We investigated the temporal sequence between onset of center of pressure (CoP) displacement and onset of hand displacement by means of two AMTI force plates and a two-camera optoelectronic system (ELITE). The task was to reach for a cup. Reflective markers were placed on hand, trunk and the cup. Four children with spastic Diplegia and eight control children (aged 5–12) participated. They were tested wearing DAFOs (Diplegia) and the results were compared with wearing shoes (Diplegia and control). The children with spastic Diplegia were able to make use of anticipatory changes in CoP displacement. The results indicated that more trials in children with spastic Diplegia had CoP onset preceding hand onset while wearing DAFOs (18/20) than when wearing only shoes. More trials (27/40) during the 20% reaching condition in the control group had CoP onset preceding h...
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Effects of dynamic ankle-foot orthoses on standing in children with severe spastic Diplegia
International Journal of Therapy and Rehabilitation, 2005Co-Authors: Annika Näslund, Kristina Jesinkey, Gunnevi Sundelin, L Von Wendt, Helga HirschfeldtAbstract:Effects of dynamic ankle-foot orthoses on standing in children with severe spastic Diplegia
Donald Thomas - One of the best experts on this subject based on the ideXlab platform.
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De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
Archives of Neurology, 2006Co-Authors: Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K. FinkAbstract:Background Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. Objective To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. Methods The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. Seventeen microsatellite polymorphisms were amplified and analyzed to confirm reported paternity. Results We identified a novel SPG3A mutation (L157W) in the proband and her affected child. This mutation was absent in the proband's unaffected parents. Results of microsatellite polymorphism analysis were consistent with paternity as reported. These results indicate that this novel SPG3A mutation arose de novo in the proband. Conclusions We report the de novo occurrence of a novel SPG3A mutation in a subject with childhood-onset, nonprogressive, spastic Diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Although rare, the occurrence of a de novo hereditary spastic paraplegia gene mutation must be considered in subjects with spastic diplegic cerebral palsy for whom no other cause is identified. This is extremely important for correct genetic counseling because recurrence risk may be as high as 50% when a mutation is detected.
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de novo occurrence of novel spg3a atlastin mutation presenting as cerebral palsy
JAMA Neurology, 2006Co-Authors: Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K. FinkAbstract:Background Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. Objective To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. Methods The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. Seventeen microsatellite polymorphisms were amplified and analyzed to confirm reported paternity. Results We identified a novel SPG3A mutation (L157W) in the proband and her affected child. This mutation was absent in the proband's unaffected parents. Results of microsatellite polymorphism analysis were consistent with paternity as reported. These results indicate that this novel SPG3A mutation arose de novo in the proband. Conclusions We report the de novo occurrence of a novel SPG3A mutation in a subject with childhood-onset, nonprogressive, spastic Diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Although rare, the occurrence of a de novo hereditary spastic paraplegia gene mutation must be considered in subjects with spastic diplegic cerebral palsy for whom no other cause is identified. This is extremely important for correct genetic counseling because recurrence risk may be as high as 50% when a mutation is detected.
