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M Hutchinson - One of the best experts on this subject based on the ideXlab platform.
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age related cognitive decline in hereditary spastic Paraparesis linked to chromosome 2p
Neurology, 2000Co-Authors: Paula C Byrne, N Parfrey, Mc P Monagle, S Webb, B. Fitzgerald, M HutchinsonAbstract:Objectives: To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic Paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of Paraparesis. Background: The major locus for “pure” autosomal dominant HSP is the SPG4 locus on chromosome 2p. Cognitive impairment linked to this locus has been described in two families. Methods: The authors identified 19 families with “pure” autosomal dominant HSP. Five had linkage to the SPG4 locus (maximum lod score for D2S2374: 5.99 at zero recombination in four smaller families and 3.86 at zero recombination in the largest family). Haplotype construction identified a disease haplotype for all families; 41 individuals carried this haplotype (30 affected by HSP, 11 unaffected). All haplotype carriers and 41 matched controls underwent Cambridge Cognitive (CAMCOG) examination. Nonparametric significance tests were used comparing total and subset scores. Results: Haplotype carriers affected by HSP had lower total CAMCOG scores than control subjects (85.86/107 versus 96.2/107; p p = 0.016). In both groups cognitive decline was age-dependent and scores diverged from control subjects from age 40. All SPG4-linked families showed the effect. Conclusion: Mild, age-related cognitive impairment is a feature common to these families. It illustrates variable phenotypic expression at this locus and may be the first manifestation of the disease gene in individuals as yet unaffected by Paraparesis.
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linkage of ad hsp and cognitive impairment to chromosome 2p haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
European Journal of Human Genetics, 1998Co-Authors: Paula C Byrne, Fergus Mcsweeney, M Hutchinson, S Webb, T. Burke, N ParfreyAbstract:We report linkage of a family affected with autosomal dominant hereditary spastic Paraparesis (HSP) and/or cognitive impairment to the HSP locus on chromosome 2p. To date all families linked to this locus have been affected with ‘pure’ HSP. The specific pattern of cognitive impairment in this family is characterised primarily by deficits in visuo-spatial functions. We also present genetic studies that indicate variable expression and low or delayed penetrance. We have constructed a haplotype flanked by polymorphic markers D2S400 and D2S2331 that was present in 12 individuals affected with spastic Paraparesis. The severity of spasticity varied markedly among these individuals. In addition four of these individuals (aged 62–70) also had a specific form of cognitive impairment. The disease haplotype was also present in an individual (age 57) who had an identical pattern of cognitive impairment as the only sign of the disease supporting the hypothesis that spastic Paraparesis and cognitive impairment are the result of variable expression of a single gene (rather than a co-incidental occurrence). Haplotype reconstruction for all participating family members revealed the presence of this disease haplotype in six individuals who had normal neurological and neuropsychological examinations. All six are below the maximal age of onset in the family – 60 years. This is evidence for low or late penetrance of the AD HSP gene in this family. The identification of normal individuals carrying the disease haplotype demonstrates the importance of genetic studies in combination with clinical examination when counselling at risk family members.
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autosomal dominant hereditary spastic Paraparesis with cognitive loss linked to chromosome 2p
Brain, 1998Co-Authors: S Webb, D Coleman, N Parfrey, J Hutchinson, Paula C Byrne, T. Burke, M HutchinsonAbstract:Summary A family initially considered to have ‘pure’ autosomaldominant hereditary spastic Paraparesis (HSP), was foundon neuropsychological testing to have evidence of late onsetcognitive impairment. This family showed genetic linkage tothe SPG4 locus on chromosome 2p previously reported forpure HSP. Of 56 living members, 44 were examined, 30 ofwhom were .30 years of age and 12 members were foundto be affected with HSP including four asymptomatic cases.One other family member (III-5), aged 62 years, died prior tothis study of a 4-year dementing illness. Neuropsychologicalassessment of 11 affected members and 11 matched,Keywords: hereditary spastic Paraparesis; cognitive impairment; genetic linkageAbbreviations: CAMCOG 5 Cambridge Cognitive Examination; HSP 5 hereditary spastic Paraparesis; STMS 5 Short Testof Mental Status Introduction Hereditary spastic Paraparesis (HSP) may have autosomaldominant, recessive or X-linked inheritance and present ineither pure or complicated forms. Pure HSP is characterizedclinically by progressive spastic Paraparesis and pathologic-ally by degeneration of the corticospinal tracts and, to alesser extent, the dorsal column and spinocerebellar tracts(Stru¨mpell, 1880). In complicated HSP other clinical featuresmay include mental retardation, dementia, epilepsy, sensoryneuropathy and pigmented retinal degeneration (Sutherland,1975). Although mental retardation is commonly associatedwith HSP, reports of associated dementia are rare and usuallyin autosomal recessive pedigrees (Bruyn, 1995).This division of HSP into pure and complicated formsmay be artificial. There is evidence, on neurophysiologicaltesting, of subclinical involvement of other tracts in the CNSin both forms (Dimitrijevic et al., 1982; Tedeschi et al., 1991;Durr et al., 1994). Tedeschi et al. (1991) also demonstratedcognitive impairment in five out of seven patients with ‘pure’HSP on neuropsychological testing.© Oxford University Press 1998unaffected, family controls showed no significant differencesbetween the two groups. However, the neuropsychologicaltest profile in four of 11 affected members tested (mean age47.2 years) and one of 11 family controls (mean age 41.5years) showed global cognitive impairment. The pattern ofcognitive dysfunction was the same for all five family membersidentified and was similar to that found in subcorticaldementia. The presence of cognitive impairment appeared tobe related to age and not the severity of the paraplegia. Boththe severity of the paraplegia and the age of onset (21–60years) varied considerably in this family.Families with autosomal dominant pure HSP have beenlinked to loci on chromosomes 2, 14 and 15 and at least oneother locus is suspected (Hazan et al., 1993; Hazan et al.,1994; Bruyn et al., 1995; Fink et al., 1995). The locus atchromosome 2p21–24 (SPG4) accounts for 40% of suchfamilies tested (Durr et al., 1996). Genetic linkage studies infamilies with complicated HSP have not yet been reported.In this study we report on a large Irish family initiallythought to have pure autosomal dominant HSP, in whomsome members, on neuropsychological testing, show evidenceof global cognitive deficits with preservation of verbalfunction. Genetic linkage was established to the candidateregion for pure HSP on chromosome 2 (SPG4).
N Parfrey - One of the best experts on this subject based on the ideXlab platform.
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age related cognitive decline in hereditary spastic Paraparesis linked to chromosome 2p
Neurology, 2000Co-Authors: Paula C Byrne, N Parfrey, Mc P Monagle, S Webb, B. Fitzgerald, M HutchinsonAbstract:Objectives: To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic Paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of Paraparesis. Background: The major locus for “pure” autosomal dominant HSP is the SPG4 locus on chromosome 2p. Cognitive impairment linked to this locus has been described in two families. Methods: The authors identified 19 families with “pure” autosomal dominant HSP. Five had linkage to the SPG4 locus (maximum lod score for D2S2374: 5.99 at zero recombination in four smaller families and 3.86 at zero recombination in the largest family). Haplotype construction identified a disease haplotype for all families; 41 individuals carried this haplotype (30 affected by HSP, 11 unaffected). All haplotype carriers and 41 matched controls underwent Cambridge Cognitive (CAMCOG) examination. Nonparametric significance tests were used comparing total and subset scores. Results: Haplotype carriers affected by HSP had lower total CAMCOG scores than control subjects (85.86/107 versus 96.2/107; p p = 0.016). In both groups cognitive decline was age-dependent and scores diverged from control subjects from age 40. All SPG4-linked families showed the effect. Conclusion: Mild, age-related cognitive impairment is a feature common to these families. It illustrates variable phenotypic expression at this locus and may be the first manifestation of the disease gene in individuals as yet unaffected by Paraparesis.
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linkage of ad hsp and cognitive impairment to chromosome 2p haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
European Journal of Human Genetics, 1998Co-Authors: Paula C Byrne, Fergus Mcsweeney, M Hutchinson, S Webb, T. Burke, N ParfreyAbstract:We report linkage of a family affected with autosomal dominant hereditary spastic Paraparesis (HSP) and/or cognitive impairment to the HSP locus on chromosome 2p. To date all families linked to this locus have been affected with ‘pure’ HSP. The specific pattern of cognitive impairment in this family is characterised primarily by deficits in visuo-spatial functions. We also present genetic studies that indicate variable expression and low or delayed penetrance. We have constructed a haplotype flanked by polymorphic markers D2S400 and D2S2331 that was present in 12 individuals affected with spastic Paraparesis. The severity of spasticity varied markedly among these individuals. In addition four of these individuals (aged 62–70) also had a specific form of cognitive impairment. The disease haplotype was also present in an individual (age 57) who had an identical pattern of cognitive impairment as the only sign of the disease supporting the hypothesis that spastic Paraparesis and cognitive impairment are the result of variable expression of a single gene (rather than a co-incidental occurrence). Haplotype reconstruction for all participating family members revealed the presence of this disease haplotype in six individuals who had normal neurological and neuropsychological examinations. All six are below the maximal age of onset in the family – 60 years. This is evidence for low or late penetrance of the AD HSP gene in this family. The identification of normal individuals carrying the disease haplotype demonstrates the importance of genetic studies in combination with clinical examination when counselling at risk family members.
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autosomal dominant hereditary spastic Paraparesis with cognitive loss linked to chromosome 2p
Brain, 1998Co-Authors: S Webb, D Coleman, N Parfrey, J Hutchinson, Paula C Byrne, T. Burke, M HutchinsonAbstract:Summary A family initially considered to have ‘pure’ autosomaldominant hereditary spastic Paraparesis (HSP), was foundon neuropsychological testing to have evidence of late onsetcognitive impairment. This family showed genetic linkage tothe SPG4 locus on chromosome 2p previously reported forpure HSP. Of 56 living members, 44 were examined, 30 ofwhom were .30 years of age and 12 members were foundto be affected with HSP including four asymptomatic cases.One other family member (III-5), aged 62 years, died prior tothis study of a 4-year dementing illness. Neuropsychologicalassessment of 11 affected members and 11 matched,Keywords: hereditary spastic Paraparesis; cognitive impairment; genetic linkageAbbreviations: CAMCOG 5 Cambridge Cognitive Examination; HSP 5 hereditary spastic Paraparesis; STMS 5 Short Testof Mental Status Introduction Hereditary spastic Paraparesis (HSP) may have autosomaldominant, recessive or X-linked inheritance and present ineither pure or complicated forms. Pure HSP is characterizedclinically by progressive spastic Paraparesis and pathologic-ally by degeneration of the corticospinal tracts and, to alesser extent, the dorsal column and spinocerebellar tracts(Stru¨mpell, 1880). In complicated HSP other clinical featuresmay include mental retardation, dementia, epilepsy, sensoryneuropathy and pigmented retinal degeneration (Sutherland,1975). Although mental retardation is commonly associatedwith HSP, reports of associated dementia are rare and usuallyin autosomal recessive pedigrees (Bruyn, 1995).This division of HSP into pure and complicated formsmay be artificial. There is evidence, on neurophysiologicaltesting, of subclinical involvement of other tracts in the CNSin both forms (Dimitrijevic et al., 1982; Tedeschi et al., 1991;Durr et al., 1994). Tedeschi et al. (1991) also demonstratedcognitive impairment in five out of seven patients with ‘pure’HSP on neuropsychological testing.© Oxford University Press 1998unaffected, family controls showed no significant differencesbetween the two groups. However, the neuropsychologicaltest profile in four of 11 affected members tested (mean age47.2 years) and one of 11 family controls (mean age 41.5years) showed global cognitive impairment. The pattern ofcognitive dysfunction was the same for all five family membersidentified and was similar to that found in subcorticaldementia. The presence of cognitive impairment appeared tobe related to age and not the severity of the paraplegia. Boththe severity of the paraplegia and the age of onset (21–60years) varied considerably in this family.Families with autosomal dominant pure HSP have beenlinked to loci on chromosomes 2, 14 and 15 and at least oneother locus is suspected (Hazan et al., 1993; Hazan et al.,1994; Bruyn et al., 1995; Fink et al., 1995). The locus atchromosome 2p21–24 (SPG4) accounts for 40% of suchfamilies tested (Durr et al., 1996). Genetic linkage studies infamilies with complicated HSP have not yet been reported.In this study we report on a large Irish family initiallythought to have pure autosomal dominant HSP, in whomsome members, on neuropsychological testing, show evidenceof global cognitive deficits with preservation of verbalfunction. Genetic linkage was established to the candidateregion for pure HSP on chromosome 2 (SPG4).
Paula C Byrne - One of the best experts on this subject based on the ideXlab platform.
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age related cognitive decline in hereditary spastic Paraparesis linked to chromosome 2p
Neurology, 2000Co-Authors: Paula C Byrne, N Parfrey, Mc P Monagle, S Webb, B. Fitzgerald, M HutchinsonAbstract:Objectives: To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic Paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of Paraparesis. Background: The major locus for “pure” autosomal dominant HSP is the SPG4 locus on chromosome 2p. Cognitive impairment linked to this locus has been described in two families. Methods: The authors identified 19 families with “pure” autosomal dominant HSP. Five had linkage to the SPG4 locus (maximum lod score for D2S2374: 5.99 at zero recombination in four smaller families and 3.86 at zero recombination in the largest family). Haplotype construction identified a disease haplotype for all families; 41 individuals carried this haplotype (30 affected by HSP, 11 unaffected). All haplotype carriers and 41 matched controls underwent Cambridge Cognitive (CAMCOG) examination. Nonparametric significance tests were used comparing total and subset scores. Results: Haplotype carriers affected by HSP had lower total CAMCOG scores than control subjects (85.86/107 versus 96.2/107; p p = 0.016). In both groups cognitive decline was age-dependent and scores diverged from control subjects from age 40. All SPG4-linked families showed the effect. Conclusion: Mild, age-related cognitive impairment is a feature common to these families. It illustrates variable phenotypic expression at this locus and may be the first manifestation of the disease gene in individuals as yet unaffected by Paraparesis.
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linkage of ad hsp and cognitive impairment to chromosome 2p haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
European Journal of Human Genetics, 1998Co-Authors: Paula C Byrne, Fergus Mcsweeney, M Hutchinson, S Webb, T. Burke, N ParfreyAbstract:We report linkage of a family affected with autosomal dominant hereditary spastic Paraparesis (HSP) and/or cognitive impairment to the HSP locus on chromosome 2p. To date all families linked to this locus have been affected with ‘pure’ HSP. The specific pattern of cognitive impairment in this family is characterised primarily by deficits in visuo-spatial functions. We also present genetic studies that indicate variable expression and low or delayed penetrance. We have constructed a haplotype flanked by polymorphic markers D2S400 and D2S2331 that was present in 12 individuals affected with spastic Paraparesis. The severity of spasticity varied markedly among these individuals. In addition four of these individuals (aged 62–70) also had a specific form of cognitive impairment. The disease haplotype was also present in an individual (age 57) who had an identical pattern of cognitive impairment as the only sign of the disease supporting the hypothesis that spastic Paraparesis and cognitive impairment are the result of variable expression of a single gene (rather than a co-incidental occurrence). Haplotype reconstruction for all participating family members revealed the presence of this disease haplotype in six individuals who had normal neurological and neuropsychological examinations. All six are below the maximal age of onset in the family – 60 years. This is evidence for low or late penetrance of the AD HSP gene in this family. The identification of normal individuals carrying the disease haplotype demonstrates the importance of genetic studies in combination with clinical examination when counselling at risk family members.
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autosomal dominant hereditary spastic Paraparesis with cognitive loss linked to chromosome 2p
Brain, 1998Co-Authors: S Webb, D Coleman, N Parfrey, J Hutchinson, Paula C Byrne, T. Burke, M HutchinsonAbstract:Summary A family initially considered to have ‘pure’ autosomaldominant hereditary spastic Paraparesis (HSP), was foundon neuropsychological testing to have evidence of late onsetcognitive impairment. This family showed genetic linkage tothe SPG4 locus on chromosome 2p previously reported forpure HSP. Of 56 living members, 44 were examined, 30 ofwhom were .30 years of age and 12 members were foundto be affected with HSP including four asymptomatic cases.One other family member (III-5), aged 62 years, died prior tothis study of a 4-year dementing illness. Neuropsychologicalassessment of 11 affected members and 11 matched,Keywords: hereditary spastic Paraparesis; cognitive impairment; genetic linkageAbbreviations: CAMCOG 5 Cambridge Cognitive Examination; HSP 5 hereditary spastic Paraparesis; STMS 5 Short Testof Mental Status Introduction Hereditary spastic Paraparesis (HSP) may have autosomaldominant, recessive or X-linked inheritance and present ineither pure or complicated forms. Pure HSP is characterizedclinically by progressive spastic Paraparesis and pathologic-ally by degeneration of the corticospinal tracts and, to alesser extent, the dorsal column and spinocerebellar tracts(Stru¨mpell, 1880). In complicated HSP other clinical featuresmay include mental retardation, dementia, epilepsy, sensoryneuropathy and pigmented retinal degeneration (Sutherland,1975). Although mental retardation is commonly associatedwith HSP, reports of associated dementia are rare and usuallyin autosomal recessive pedigrees (Bruyn, 1995).This division of HSP into pure and complicated formsmay be artificial. There is evidence, on neurophysiologicaltesting, of subclinical involvement of other tracts in the CNSin both forms (Dimitrijevic et al., 1982; Tedeschi et al., 1991;Durr et al., 1994). Tedeschi et al. (1991) also demonstratedcognitive impairment in five out of seven patients with ‘pure’HSP on neuropsychological testing.© Oxford University Press 1998unaffected, family controls showed no significant differencesbetween the two groups. However, the neuropsychologicaltest profile in four of 11 affected members tested (mean age47.2 years) and one of 11 family controls (mean age 41.5years) showed global cognitive impairment. The pattern ofcognitive dysfunction was the same for all five family membersidentified and was similar to that found in subcorticaldementia. The presence of cognitive impairment appeared tobe related to age and not the severity of the paraplegia. Boththe severity of the paraplegia and the age of onset (21–60years) varied considerably in this family.Families with autosomal dominant pure HSP have beenlinked to loci on chromosomes 2, 14 and 15 and at least oneother locus is suspected (Hazan et al., 1993; Hazan et al.,1994; Bruyn et al., 1995; Fink et al., 1995). The locus atchromosome 2p21–24 (SPG4) accounts for 40% of suchfamilies tested (Durr et al., 1996). Genetic linkage studies infamilies with complicated HSP have not yet been reported.In this study we report on a large Irish family initiallythought to have pure autosomal dominant HSP, in whomsome members, on neuropsychological testing, show evidenceof global cognitive deficits with preservation of verbalfunction. Genetic linkage was established to the candidateregion for pure HSP on chromosome 2 (SPG4).
S Webb - One of the best experts on this subject based on the ideXlab platform.
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age related cognitive decline in hereditary spastic Paraparesis linked to chromosome 2p
Neurology, 2000Co-Authors: Paula C Byrne, N Parfrey, Mc P Monagle, S Webb, B. Fitzgerald, M HutchinsonAbstract:Objectives: To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic Paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of Paraparesis. Background: The major locus for “pure” autosomal dominant HSP is the SPG4 locus on chromosome 2p. Cognitive impairment linked to this locus has been described in two families. Methods: The authors identified 19 families with “pure” autosomal dominant HSP. Five had linkage to the SPG4 locus (maximum lod score for D2S2374: 5.99 at zero recombination in four smaller families and 3.86 at zero recombination in the largest family). Haplotype construction identified a disease haplotype for all families; 41 individuals carried this haplotype (30 affected by HSP, 11 unaffected). All haplotype carriers and 41 matched controls underwent Cambridge Cognitive (CAMCOG) examination. Nonparametric significance tests were used comparing total and subset scores. Results: Haplotype carriers affected by HSP had lower total CAMCOG scores than control subjects (85.86/107 versus 96.2/107; p p = 0.016). In both groups cognitive decline was age-dependent and scores diverged from control subjects from age 40. All SPG4-linked families showed the effect. Conclusion: Mild, age-related cognitive impairment is a feature common to these families. It illustrates variable phenotypic expression at this locus and may be the first manifestation of the disease gene in individuals as yet unaffected by Paraparesis.
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linkage of ad hsp and cognitive impairment to chromosome 2p haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
European Journal of Human Genetics, 1998Co-Authors: Paula C Byrne, Fergus Mcsweeney, M Hutchinson, S Webb, T. Burke, N ParfreyAbstract:We report linkage of a family affected with autosomal dominant hereditary spastic Paraparesis (HSP) and/or cognitive impairment to the HSP locus on chromosome 2p. To date all families linked to this locus have been affected with ‘pure’ HSP. The specific pattern of cognitive impairment in this family is characterised primarily by deficits in visuo-spatial functions. We also present genetic studies that indicate variable expression and low or delayed penetrance. We have constructed a haplotype flanked by polymorphic markers D2S400 and D2S2331 that was present in 12 individuals affected with spastic Paraparesis. The severity of spasticity varied markedly among these individuals. In addition four of these individuals (aged 62–70) also had a specific form of cognitive impairment. The disease haplotype was also present in an individual (age 57) who had an identical pattern of cognitive impairment as the only sign of the disease supporting the hypothesis that spastic Paraparesis and cognitive impairment are the result of variable expression of a single gene (rather than a co-incidental occurrence). Haplotype reconstruction for all participating family members revealed the presence of this disease haplotype in six individuals who had normal neurological and neuropsychological examinations. All six are below the maximal age of onset in the family – 60 years. This is evidence for low or late penetrance of the AD HSP gene in this family. The identification of normal individuals carrying the disease haplotype demonstrates the importance of genetic studies in combination with clinical examination when counselling at risk family members.
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autosomal dominant hereditary spastic Paraparesis with cognitive loss linked to chromosome 2p
Brain, 1998Co-Authors: S Webb, D Coleman, N Parfrey, J Hutchinson, Paula C Byrne, T. Burke, M HutchinsonAbstract:Summary A family initially considered to have ‘pure’ autosomaldominant hereditary spastic Paraparesis (HSP), was foundon neuropsychological testing to have evidence of late onsetcognitive impairment. This family showed genetic linkage tothe SPG4 locus on chromosome 2p previously reported forpure HSP. Of 56 living members, 44 were examined, 30 ofwhom were .30 years of age and 12 members were foundto be affected with HSP including four asymptomatic cases.One other family member (III-5), aged 62 years, died prior tothis study of a 4-year dementing illness. Neuropsychologicalassessment of 11 affected members and 11 matched,Keywords: hereditary spastic Paraparesis; cognitive impairment; genetic linkageAbbreviations: CAMCOG 5 Cambridge Cognitive Examination; HSP 5 hereditary spastic Paraparesis; STMS 5 Short Testof Mental Status Introduction Hereditary spastic Paraparesis (HSP) may have autosomaldominant, recessive or X-linked inheritance and present ineither pure or complicated forms. Pure HSP is characterizedclinically by progressive spastic Paraparesis and pathologic-ally by degeneration of the corticospinal tracts and, to alesser extent, the dorsal column and spinocerebellar tracts(Stru¨mpell, 1880). In complicated HSP other clinical featuresmay include mental retardation, dementia, epilepsy, sensoryneuropathy and pigmented retinal degeneration (Sutherland,1975). Although mental retardation is commonly associatedwith HSP, reports of associated dementia are rare and usuallyin autosomal recessive pedigrees (Bruyn, 1995).This division of HSP into pure and complicated formsmay be artificial. There is evidence, on neurophysiologicaltesting, of subclinical involvement of other tracts in the CNSin both forms (Dimitrijevic et al., 1982; Tedeschi et al., 1991;Durr et al., 1994). Tedeschi et al. (1991) also demonstratedcognitive impairment in five out of seven patients with ‘pure’HSP on neuropsychological testing.© Oxford University Press 1998unaffected, family controls showed no significant differencesbetween the two groups. However, the neuropsychologicaltest profile in four of 11 affected members tested (mean age47.2 years) and one of 11 family controls (mean age 41.5years) showed global cognitive impairment. The pattern ofcognitive dysfunction was the same for all five family membersidentified and was similar to that found in subcorticaldementia. The presence of cognitive impairment appeared tobe related to age and not the severity of the paraplegia. Boththe severity of the paraplegia and the age of onset (21–60years) varied considerably in this family.Families with autosomal dominant pure HSP have beenlinked to loci on chromosomes 2, 14 and 15 and at least oneother locus is suspected (Hazan et al., 1993; Hazan et al.,1994; Bruyn et al., 1995; Fink et al., 1995). The locus atchromosome 2p21–24 (SPG4) accounts for 40% of suchfamilies tested (Durr et al., 1996). Genetic linkage studies infamilies with complicated HSP have not yet been reported.In this study we report on a large Irish family initiallythought to have pure autosomal dominant HSP, in whomsome members, on neuropsychological testing, show evidenceof global cognitive deficits with preservation of verbalfunction. Genetic linkage was established to the candidateregion for pure HSP on chromosome 2 (SPG4).
Peter Lindschau - One of the best experts on this subject based on the ideXlab platform.
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tropical spastic Paraparesis in an aborigine
The Medical Journal of Australia, 1993Co-Authors: Nadarajah Rajabalendaran, Lindsay Mollison, Richard Burns, William Blessing, Meshach Kirubakaran, Peter LindschauAbstract:OBJECTIVE To present the first documented case of human T-lymphotropic virus type I (HTLV-I) associated myelopathy/tropical spastic Paraparesis in the Australian population. CLINICAL FEATURES A 31-year-old Aboriginal man with an 18-month history of progressive weakness of the legs was found to have an upper motor neurone weakness of all limbs associated with sphincteric disturbance and impotence. HTLV-I antibodies were detected in his serum and no other cause for the patient's myelopathy could be found. INTERVENTION AND OUTCOME He was counselled regarding HTLV-I associated myelopathy/tropical spastic Paraparesis. CONCLUSION This is the first description of HTLV-I associated myelopathy/tropical spastic Paraparesis in an Australian. In cases of spinal cord disorder without evidence of compression we recommend serological testing for HTLV-I, especially in Aboriginal patients. Additionally, testing of blood donors for this retrovirus needs consideration.
