The Experts below are selected from a list of 324 Experts worldwide ranked by ideXlab platform
Michael G Fehlings - One of the best experts on this subject based on the ideXlab platform.
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Lhermitte Duclos Disease mimicking adult onset aqueductal stenosis case report
Journal of Neurosurgery, 1994Co-Authors: Shah N Siddiqi, Michael G FehlingsAbstract:✓ Lhermitte-Duclos Disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. This case report describes a 51-year-old woman who was initially misdiagnosed as having adult-onset aqueductal stenosis. There were no abnormal findings on computerized tomography (CT), but subsequent magnetic resonance (MR) imaging showed a midline cerebellar lesion extending to the brain stem. This is a unique case of Lhermitte-Duclos Disease arising within the cerebellar vermis. The characteristic feature of an enlarged cerebellar hemisphere is absent on CT scans; thus MR imaging is needed to confirm the diagnosis. If diagnosed late, this generally benign lesion becomes difficult to resect totally and has a poorer prognosis. Only two reports have mentioned the MR imaging characteristics of Lhermitte-Duclos Disease; both described only T2-weighted images. This case illustrates the full spectrum of MR imaging features of this Disease. Both T1- and T2-weighted studies showed enlarged ...
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Lhermitte Duclos Disease mimicking adult onset aqueductal stenosis case report
Journal of Neurosurgery, 1994Co-Authors: Shah N Siddiqi, Michael G FehlingsAbstract:Lhermitte-Duclos Disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. This case report describes a 51-year-old woman who was initially misdiagnosed as having adult-onset aqueductal stenosis. There were no abnormal findings on computerized tomography (CT), but subsequent magnetic resonance (MR) imaging showed a midline cerebellar lesion extending to the brain stem. This is a unique case of Lhermitte-Duclos Disease arising within the cerebellar vermis. The characteristic feature of an enlarged cerebellar hemisphere is absent on CT scans; thus MR imaging is needed to confirm the diagnosis. If diagnosed late, this generally benign lesion becomes difficult to resect totally and has a poorer prognosis. Only two reports have mentioned the MR imaging characteristics of Lhermitte-Duclos Disease; both described only T2-weighted images. This case illustrates the full spectrum of MR imaging features of this Disease. Both T1- and T2-weighted studies showed enlarged cerebellar folia within the lesion. The T1-weighted image showed a mixed iso- and hypodense signal and the T2-weighted image a homogeneously increased signal; with gadolinium administration the lesion did not enhance. The latter feature supports the theory that this Disease is a hamartoma rather than a tumor.
K. Moriwaki - One of the best experts on this subject based on the ideXlab platform.
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A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos Disease - only the mutated allele was expressed in the cerebellar tumor.
International journal of molecular medicine, 1998Co-Authors: S. Iida, Y. Tanaka, Fujii H, S. Hayashi, M Kimura, T. Nagareda, K. MoriwakiAbstract:Lhermitte-Duclos Disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The Disease is sometimes associated with multiple hamartoma syndrome, or Cowden Disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden Disease. A family member in one of these families have had Lhermitte-Duclos Disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos Disease. However, the occurrence of Lhermitte-Duclos Disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos Disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressed in the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.
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a heterozygous frameshift mutation of the pten mmac1 gene in a patient with Lhermitte Duclos Disease only the mutated allele was expressed in the cerebellar tumor
International Journal of Molecular Medicine, 1998Co-Authors: S. Iida, Y. Tanaka, S. Hayashi, M Kimura, T. Nagareda, H Fujii, K. MoriwakiAbstract:Lhermitte-Duclos Disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The Disease is sometimes associated with multiple hamartoma syndrome, or Cowden Disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden Disease. A family member in one of these families have had Lhermitte-Duclos Disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos Disease. However, the occurrence of Lhermitte-Duclos Disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos Disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressed in the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.
Shah N Siddiqi - One of the best experts on this subject based on the ideXlab platform.
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Lhermitte Duclos Disease mimicking adult onset aqueductal stenosis case report
Journal of Neurosurgery, 1994Co-Authors: Shah N Siddiqi, Michael G FehlingsAbstract:✓ Lhermitte-Duclos Disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. This case report describes a 51-year-old woman who was initially misdiagnosed as having adult-onset aqueductal stenosis. There were no abnormal findings on computerized tomography (CT), but subsequent magnetic resonance (MR) imaging showed a midline cerebellar lesion extending to the brain stem. This is a unique case of Lhermitte-Duclos Disease arising within the cerebellar vermis. The characteristic feature of an enlarged cerebellar hemisphere is absent on CT scans; thus MR imaging is needed to confirm the diagnosis. If diagnosed late, this generally benign lesion becomes difficult to resect totally and has a poorer prognosis. Only two reports have mentioned the MR imaging characteristics of Lhermitte-Duclos Disease; both described only T2-weighted images. This case illustrates the full spectrum of MR imaging features of this Disease. Both T1- and T2-weighted studies showed enlarged ...
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Lhermitte Duclos Disease mimicking adult onset aqueductal stenosis case report
Journal of Neurosurgery, 1994Co-Authors: Shah N Siddiqi, Michael G FehlingsAbstract:Lhermitte-Duclos Disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. This case report describes a 51-year-old woman who was initially misdiagnosed as having adult-onset aqueductal stenosis. There were no abnormal findings on computerized tomography (CT), but subsequent magnetic resonance (MR) imaging showed a midline cerebellar lesion extending to the brain stem. This is a unique case of Lhermitte-Duclos Disease arising within the cerebellar vermis. The characteristic feature of an enlarged cerebellar hemisphere is absent on CT scans; thus MR imaging is needed to confirm the diagnosis. If diagnosed late, this generally benign lesion becomes difficult to resect totally and has a poorer prognosis. Only two reports have mentioned the MR imaging characteristics of Lhermitte-Duclos Disease; both described only T2-weighted images. This case illustrates the full spectrum of MR imaging features of this Disease. Both T1- and T2-weighted studies showed enlarged cerebellar folia within the lesion. The T1-weighted image showed a mixed iso- and hypodense signal and the T2-weighted image a homogeneously increased signal; with gadolinium administration the lesion did not enhance. The latter feature supports the theory that this Disease is a hamartoma rather than a tumor.
S. Iida - One of the best experts on this subject based on the ideXlab platform.
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A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos Disease - only the mutated allele was expressed in the cerebellar tumor.
International journal of molecular medicine, 1998Co-Authors: S. Iida, Y. Tanaka, Fujii H, S. Hayashi, M Kimura, T. Nagareda, K. MoriwakiAbstract:Lhermitte-Duclos Disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The Disease is sometimes associated with multiple hamartoma syndrome, or Cowden Disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden Disease. A family member in one of these families have had Lhermitte-Duclos Disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos Disease. However, the occurrence of Lhermitte-Duclos Disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos Disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressed in the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.
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a heterozygous frameshift mutation of the pten mmac1 gene in a patient with Lhermitte Duclos Disease only the mutated allele was expressed in the cerebellar tumor
International Journal of Molecular Medicine, 1998Co-Authors: S. Iida, Y. Tanaka, S. Hayashi, M Kimura, T. Nagareda, H Fujii, K. MoriwakiAbstract:Lhermitte-Duclos Disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The Disease is sometimes associated with multiple hamartoma syndrome, or Cowden Disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden Disease. A family member in one of these families have had Lhermitte-Duclos Disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos Disease. However, the occurrence of Lhermitte-Duclos Disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos Disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressed in the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.
Y. Tanaka - One of the best experts on this subject based on the ideXlab platform.
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A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos Disease - only the mutated allele was expressed in the cerebellar tumor.
International journal of molecular medicine, 1998Co-Authors: S. Iida, Y. Tanaka, Fujii H, S. Hayashi, M Kimura, T. Nagareda, K. MoriwakiAbstract:Lhermitte-Duclos Disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The Disease is sometimes associated with multiple hamartoma syndrome, or Cowden Disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden Disease. A family member in one of these families have had Lhermitte-Duclos Disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos Disease. However, the occurrence of Lhermitte-Duclos Disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos Disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressed in the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.
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a heterozygous frameshift mutation of the pten mmac1 gene in a patient with Lhermitte Duclos Disease only the mutated allele was expressed in the cerebellar tumor
International Journal of Molecular Medicine, 1998Co-Authors: S. Iida, Y. Tanaka, S. Hayashi, M Kimura, T. Nagareda, H Fujii, K. MoriwakiAbstract:Lhermitte-Duclos Disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The Disease is sometimes associated with multiple hamartoma syndrome, or Cowden Disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden Disease. A family member in one of these families have had Lhermitte-Duclos Disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos Disease. However, the occurrence of Lhermitte-Duclos Disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos Disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressed in the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.