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Frans Brugman - One of the best experts on this subject based on the ideXlab platform.
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differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult onset Upper Motor Neuron syndromes
JAMA Neurology, 2009Co-Authors: Frans Brugman, J H Veldink, M De Visser, H Franssen, J Vianney M B De Jong, C G Faber, Berry H P Kremer, Jurgen H Schelhaas, Pieter A Van Doorn, Jan J G M VerschuurenAbstract:Objective To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. Design Case series. Setting Tertiary referral center. Patients One hundred four Dutch patients with an adult-onset, sporadic Upper Motor Neuron syndrome of at least 3 years' duration. Hereditary spastic paraparesis was genetically confirmed in 14 patients (7 with SPG4 and 7 with SPG7 mutations). Results All 14 patients with the SPG4 or SPG7 mutation had symptom onset in the legs, and 1 of the patients with the SPG7 mutation also developed symptoms in the arms. Of the other 90 patients, 78 (87%) had symptom onset in the legs. Thirty-six patients developed a PLS phenotype (bulbar region involvement), 15 had a phenotype that was difficult to classify as similar to HSP or PLS (involvement of legs and arms only), and 39 continued to have a phenotype similar to typical HSP (involvement of the legs only). Median age at onset was lower in patients with the SPG4 or SPG7 mutation (39 [range, 29-69] years), but there was considerable overlap with patients with the PLS phenotype (52 [range, 32-76] years). No differences were found in the features used by previous studies to distinguish HSP from PLS, including evidence of mild dorsal column impairment (decreased vibratory sense or abnormal leg somatosensory evoked potentials), symptoms of urinary urgency, or mild electromyographic abnormalities. Conclusions In most patients with a sporadic adult-onset Upper Motor Neuron syndrome, differentiation of sporadic presentations of HSP from PLS based on clinical characteristics is unreliable and therefore depends on results of genetic testing.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
L H Van Den Berg - One of the best experts on this subject based on the ideXlab platform.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
J H Veldink - One of the best experts on this subject based on the ideXlab platform.
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differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult onset Upper Motor Neuron syndromes
JAMA Neurology, 2009Co-Authors: Frans Brugman, J H Veldink, M De Visser, H Franssen, J Vianney M B De Jong, C G Faber, Berry H P Kremer, Jurgen H Schelhaas, Pieter A Van Doorn, Jan J G M VerschuurenAbstract:Objective To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. Design Case series. Setting Tertiary referral center. Patients One hundred four Dutch patients with an adult-onset, sporadic Upper Motor Neuron syndrome of at least 3 years' duration. Hereditary spastic paraparesis was genetically confirmed in 14 patients (7 with SPG4 and 7 with SPG7 mutations). Results All 14 patients with the SPG4 or SPG7 mutation had symptom onset in the legs, and 1 of the patients with the SPG7 mutation also developed symptoms in the arms. Of the other 90 patients, 78 (87%) had symptom onset in the legs. Thirty-six patients developed a PLS phenotype (bulbar region involvement), 15 had a phenotype that was difficult to classify as similar to HSP or PLS (involvement of legs and arms only), and 39 continued to have a phenotype similar to typical HSP (involvement of the legs only). Median age at onset was lower in patients with the SPG4 or SPG7 mutation (39 [range, 29-69] years), but there was considerable overlap with patients with the PLS phenotype (52 [range, 32-76] years). No differences were found in the features used by previous studies to distinguish HSP from PLS, including evidence of mild dorsal column impairment (decreased vibratory sense or abnormal leg somatosensory evoked potentials), symptoms of urinary urgency, or mild electromyographic abnormalities. Conclusions In most patients with a sporadic adult-onset Upper Motor Neuron syndrome, differentiation of sporadic presentations of HSP from PLS based on clinical characteristics is unreliable and therefore depends on results of genetic testing.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
M De Visser - One of the best experts on this subject based on the ideXlab platform.
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differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult onset Upper Motor Neuron syndromes
JAMA Neurology, 2009Co-Authors: Frans Brugman, J H Veldink, M De Visser, H Franssen, J Vianney M B De Jong, C G Faber, Berry H P Kremer, Jurgen H Schelhaas, Pieter A Van Doorn, Jan J G M VerschuurenAbstract:Objective To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. Design Case series. Setting Tertiary referral center. Patients One hundred four Dutch patients with an adult-onset, sporadic Upper Motor Neuron syndrome of at least 3 years' duration. Hereditary spastic paraparesis was genetically confirmed in 14 patients (7 with SPG4 and 7 with SPG7 mutations). Results All 14 patients with the SPG4 or SPG7 mutation had symptom onset in the legs, and 1 of the patients with the SPG7 mutation also developed symptoms in the arms. Of the other 90 patients, 78 (87%) had symptom onset in the legs. Thirty-six patients developed a PLS phenotype (bulbar region involvement), 15 had a phenotype that was difficult to classify as similar to HSP or PLS (involvement of legs and arms only), and 39 continued to have a phenotype similar to typical HSP (involvement of the legs only). Median age at onset was lower in patients with the SPG4 or SPG7 mutation (39 [range, 29-69] years), but there was considerable overlap with patients with the PLS phenotype (52 [range, 32-76] years). No differences were found in the features used by previous studies to distinguish HSP from PLS, including evidence of mild dorsal column impairment (decreased vibratory sense or abnormal leg somatosensory evoked potentials), symptoms of urinary urgency, or mild electromyographic abnormalities. Conclusions In most patients with a sporadic adult-onset Upper Motor Neuron syndrome, differentiation of sporadic presentations of HSP from PLS based on clinical characteristics is unreliable and therefore depends on results of genetic testing.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
Hans Scheffer - One of the best experts on this subject based on the ideXlab platform.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
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paraplegin mutations in sporadic adult onset Upper Motor Neuron syndromes
Neurology, 2008Co-Authors: Frans Brugman, Willy M Nillesen, J H Veldink, Eleonora Aronica, John H. J. Wokke, M De Visser, Hans Scheffer, L H Van Den BergAbstract:OBJECTIVE: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset Upper Motor Neuron (UMN) syndromes. METHODS: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower Motor Neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene. RESULTS: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up. CONCLUSIONS: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
