ABSTRACT
We describe a rare case of multiple spinal meningiomas and evaluate the possible relationship with tamoxifen treatment. We observed a 74-year-old woman who showed a spastic paraparesis gradually developed in the last year. The patient underwent left mastectomy for a breast cancer ten years earlier and was treated with tamoxifen for four years after surgical intervention. Magnetic resonance imaging revealed three spinal meningiomas at C6-C7, D6-D7 and D9 levels. Taking in account the tumor-inducing properties of tamoxifen and the extreme rarity of multiple spinal meningiomas, we suggest that tamoxifen may be the cause play a role in the genesis of the spinal meningiomatosis in the observed patient. Therefore, we propose the long-term clinical and neurological surveillance of patients who assumed tamoxifen, even for a short time, in order to survey the possible appearance of secondary tumours.
Subject(s)
Meningeal Neoplasms/chemically induced , Meningioma/chemically induced , Tamoxifen/adverse effects , Aged , Female , Humans , Meningeal Neoplasms/diagnosis , Meningioma/diagnosisSubject(s)
Spastic Paraplegia, Hereditary/complications , Syndactyly/complications , Adult , Brain/pathology , Female , Humans , Magnetic Resonance Imaging , Neural Conduction , Neurologic Examination , Spastic Paraplegia, Hereditary/genetics , Spastic Paraplegia, Hereditary/pathology , Syndactyly/genetics , Syndactyly/pathology , Urinary Bladder/physiopathologyABSTRACT
Six families with SCA1 were studied. The clinical data on 35 patients are reported. Cerebellar and pyramidal system involvement was invariably found in association with brainstem, spinal cord and/or peripheral nervous system disorders. In our patients the clinical features appeared concordant when the patients with the same disease duration were compared. Previous reports of SCA1 families had shown great variability in clinical phenotype both interfamilial and intrafamilial. We suggest that the phenotype might appear more homogeneous if disease duration is taken into account.
Subject(s)
HLA Antigens/genetics , Spinocerebellar Degenerations/genetics , Adolescent , Adult , Child , Child, Preschool , Dysarthria/genetics , Female , Genes, Dominant , Genetic Linkage , Genetic Markers , Humans , Infant , Italy , Male , Middle Aged , Nystagmus, Pathologic/genetics , Pedigree , Phenotype , Spinocerebellar Degenerations/immunologyABSTRACT
A family with late-onset autosomal dominant pure cerebellar ataxia was studied both neurologically and genetically. Neuroimaging and electrophysiological results were in agreement with the clinical evidence showing involvement of the cerebellar system only, even many years after onset. No atrophy of inferior olives was observed by magnetic resonance imaging, while cerebellar atrophy was extremely marked. A very slow disease progression was observed in all patients. The disease can be differentiated from autosomal dominant olivo-ponto-cerebellar atrophies, and in particular from spinocerebellar ataxia type 1 mapping on chromosome 6p, which shows an early multisystemic involvement and a more rapid progression toward inability. A genetic study of the family with the 6p DNA marker D6S89 closely linked to the spinocerebellar ataxia type 1 locus was performed. Results showed significant exclusion of a linkage between the disease and the marker within a distance of 8.5% recombination, indicating that genetic heterogeneity underlies phenotypic differences.
Subject(s)
Cerebellar Ataxia/physiopathology , Adult , Aged , Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/genetics , Dominance, Cerebral , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neurologic Examination , Pedigree , Tomography, X-Ray ComputedABSTRACT
Five families with late onset spinocerebellar ataxia (SCA) were studied. A high association was found between the disease and HLA. A stronger association results with a marker called D6S89. Clinical data of 26 patients and neuropathological study in two are reported. The clinical phenotypes of other HLA-linked SCA kindreds shows differences when comparison is made. The Authors suggest that the phenotype might appear more homogeneous if disease duration is taken into account.
