1/82. Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder.- - - - - - - - - - ranking = 1keywords = spastic, dysarthria (Clic here for more details about this article) |
2/82. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.OBJECTIVE: To describe clinical, electrophysiologic, neuroimaging, and muscle biopsy features in a hereditary spastic paraplegia (HSP) kindred linked to a new HSP locus on chromosome 8q. BACKGROUND: HSP is a genetically diverse group of disorders characterized by insidiously progressive spastic weakness in the legs. We recently analyzed a Caucasian kindred with autosomal dominant HSP and identified tight linkage to a novel HSP locus on chromosome 8q23-24. methods: Clinical analysis, nerve conduction studies, electromyography, somatosensory evoked potentials, MRI of brain and spinal cord, and muscle biopsy for mitochondrial analysis were performed in members of the first HSP kindred linked to chromosome 8q. RESULTS: Fifteen individuals showed insidiously progressive spastic paraparesis beginning between ages 22 and 60 years (average, 37.2 years). spinal cord MRI in 1 moderately affected subject showed significant atrophy of the thoracic spinal cord as determined by cross-sectional area measurements. Somatosensory evoked potential recording, electromyography, nerve conduction studies, and muscle biopsy, including histochemical and biochemical analysis of mitochondrial function, were normal. CONCLUSIONS: The phenotype in this family is that of typical, but severe, uncomplicated HSP. Other than apparently increased severity, there were no clinical features that distinguished this family from autosomal dominant HSP linked to loci on chromosomes 2p, 14q, and 15q. This clinical similarity between different genetic types of autosomal dominant HSP raises the possibility that genes responsible for these clinically indistinguishable disorders may participate in a common biochemical cascade. Normal results of muscle histochemical and biochemical analysis suggest that mitochondrial disturbance, a feature of chromosome 16-linked autosomal recessive HSP due to paraplegin gene mutations, is not a feature of chromosome 8q-linked autosomal dominant HSP and may not be a common factor of HSP in general.- - - - - - - - - - ranking = 1.1646759852495keywords = spastic (Clic here for more details about this article) |
3/82. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.OBJECTIVE: To characterize a new gene locus for familial spastic paraparesis (FSP). BACKGROUND: FSP is a genetically heterogeneous group of upper motor neuron syndromes. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked disorder. Four loci for autosomal dominant FSP have been genetically mapped, and two genes have been shown responsible for the X-linked type. In addition, two loci for autosomal recessive type have been reported and mapped to chromosomes 8q and 16q. The gene for the 16q locus has been characterized as a mitochondrial protein. methods: Eight recessive FSP families from America and europe were used for genetic linkage analysis. The known recessive loci (8q and 16q) and the X-linked loci (PLP and L1CAM genes) were screened through PCR amplification, followed by linkage analysis, single-strand conformational polymorphism, or both. RESULTS: All the families except one revealed lack of linkage to the known loci for recessive and X-linked types of FSP. One of the eight families showed data consistent with linkage to the previously characterized 8q locus. Analysis of all the families for possible linkage to other candidate loci revealed significant positive lod scores for markers in chromosome 15q. The maximum multipoint combined lod score for the non-8q families was Z = 3.14 for markers D15S1007, D15S971, D15S118, and D15S1012, at a distance of 6.41 cM from the marker D15S1007, in between D15S971 and D15S118. CONCLUSIONS: Our data suggest a new locus for recessive FSP linked to chromosome 15q, and that this may be the most common one.- - - - - - - - - - ranking = 0.83191141803539keywords = spastic (Clic here for more details about this article) |
4/82. Strumpell's disease in a patient presenting for cesarean section.PURPOSE: The anesthetic management of a parturient with Strumpell's disease (hereditary or familial spastic paraparesis) who presented for cesarean section is described. This neurological disorder is briefly reviewed and anesthetic implications of the condition are discussed. CLINICAL FEATURES: A 30-yr-old woman in premature labour presented for cesarean section. She had bilateral lower limb spastic paresis which had resulted in her being confined to a wheelchair from the age of 13 yr. A diagnosis of Strumpell's disease had been made in childhood. She was currently receiving thromboprophylaxis, having suffered a deep venous thrombosis four weeks after a previous cesarean section. The patient was in mild respiratory distress. Despite a history of uneventful general anesthesia and the aforementioned complicating factors, epidural anesthesia was considered the most appropriate technique in these circumstances. An epidural catheter was sited at the L3-L4 interspace. Adequate anesthesia for the procedure was obtained after administration of 20 ml lidocaine 2% with 100 microg epinephrine and 100 microg fentanyl in saline. Postoperatively and at six month follow-up there were no neurological complications related to the use of epidural anesthesia. CONCLUSION: Strumpell's disease is an inherited progressive spastic paresis predominantly affecting the lower extremities. Epidural anesthesia appears to be an appropriate technique when administering anesthesia for cesarean section under similar circumstances.- - - - - - - - - - ranking = 0.49914685082123keywords = spastic (Clic here for more details about this article) |
5/82. Troyer syndrome: a combination of central brain abnormality and motor neuron disease?Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous disorders consisting of pure and complicated forms. A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order amish families suffering from these symptoms. We report here an Austrian family with two individuals who exhibit all the features of Troyer syndrome, and provide additional data on this disorder. Electrophysiological studies showed chronic denervation and reduced motor nerve conduction velocities but normal sensory potentials. Muscle biopsy revealed a neurogenic pattern while the sural nerve was normal on histological examination. brain abnormalities on magnetic resonance imaging consisted of a thin corpus callosum with a poorly developed cingulate gyrus and mild periventricular signal hyperintensities. These findings characterize the Troyer syndrome as a disorder of the first and second motor neuron with additional damage in the brain. The morphological features observed in this family may contribute to the grouping and subsequent understanding of complicated forms of hereditary spastic paraplegia, together with similar observations in other, more recently reported families.- - - - - - - - - - ranking = 0.33304895027374keywords = spastic, dysarthria (Clic here for more details about this article) |
6/82. A clinical study of a large inbred kindred with pure familial spastic paraplegia.BACKGROUND AND OBJECTIVES: Spastic paraplegia, an uncommon neurodegenerative disorder with phenotypic and genotypic heterogeneity, is mainly characterized by progressive weakness and spasticity of the lower limbs. We here present a large inbred family with pure familial spastic paraplegia outlining the clinical picture, the age at onset and the possible mode of inheritance. methods: This family was ascertained through two probands after which we structured an extended 10 generation pedigree. We examined 43 available family members to identify affected individuals based on fixed criteria. The clinical presentation and phenotypic specifics of this disease were studied in the affected members. We analyzed the possible mode of inheritance and the age at onset in this family. RESULTS: This 10 generation family reported about 50 affected individuals distributed over 5 consecutive generations. We identified 13 affected individuals out of the examined 43 and five individuals were classified as probably affected. We noticed the clinical specifics of this disorder in this family and identified some unique features not described in previous reports. DISCUSSION AND CONCLUSION: The mode of inheritance is either autosomal recessive or autosomal dominant with incomplete penetrance or variable expression of the age at onset. The age at onset seems to decrease with successive generations, either due to a true anticipatory phenomenon or to increased awareness. The unique features of this disorder in this family are discussed.- - - - - - - - - - ranking = 0.99829370164247keywords = spastic (Clic here for more details about this article) |
7/82. Intrathecal baclofen normalizes motor strategy for squatting in familial spastic paraplegia: a case study.We aimed to assess whether intrathecal baclofen could alter the motor strategy for squatting of a patient with pure familial spastic paraplegia. Before baclofen injection and two, four and six hours after it, the patient was evaluated as follows: self-report of walking stiffness and movement initiation; muscle tone with the Ashworth scale; and kinematic and electromyographic analysis of the squatting movement using the opto-electronic ELITE system. The patient's subjective improvement and decrease in muscle tone were dramatic after baclofen injection. Kinematic analysis of squatting showed gradual improvement. Before the injection, the movement was performed with loss of trunk verticality, backward shift of the hip, multiphasic ascending phase of the knee angular velocity and dynamic ankle stiffening. After baclofen injection, the movement was made with vertical translation of body segments and monophasic ascending phase of the knee angular velocity. The effect was maximal six hours after the injection. Electromyographic activities showed a non-specific co-contraction pattern before the injection, and a reciprocal pattern two hours after it. Moreover, a physiological anticipatory deactivation of the hamstring muscles appeared two hours after the injection. In this study of a single patient with familial spastic paraplegia, intrathecal baclofen has facilitated the emergence of normal, supraspinally determined movement patterns.- - - - - - - - - - ranking = 0.99829370164247keywords = spastic (Clic here for more details about this article) |
8/82. Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization.PURPOSE: To describe a previously unreported condition involving familial spastic paraplegia and a peculiar type of maculopathy. methods: Two pairs of siblings were studied. All four cases underwent serial clinical examinations, fundus photography, and fluorescein angiography. Two siblings had extensive investigations. RESULTS: Characteristics of the four cases include spastic paraplegia diagnosed in the first decade of life and visual loss at about age 9 due to a maculopathy with an abnormal vascular complex. In the early stages, parafoveal dilatation of the capillary network was noted. The later stages were characterized by cystic macular degeneration, and seven of eight eyes developed fibrovascular scars with retinochoroidal anastomoses, pigment migration, and atrophic changes. In two siblings, electro-oculographic findings were subnormal, whereas results of electroretinography, magnetic resonance imaging of the brain and spinal cord, and metabolic and karyotype studies were normal. These siblings were an Indonesian girl and boy; the other siblings were white males. There was no consanguinity of the parents and family history was unremarkable. CONCLUSIONS: This study suggests that the two pairs of siblings have an identical familial and probably recessive disorder with neurodegenerative changes that have caused paraplegia and a peculiar maculopathy associated with anomalous retinal vascular complexes, retinochoroidal anastomoses, and subretinal neovascularization.- - - - - - - - - - ranking = 0.99829370164247keywords = spastic (Clic here for more details about this article) |
9/82. Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype.BACKGROUND: Clinical descriptions of the dominantly inherited ataxic motor syndromes in a 7-generation family of German origin were first reported in 1951. OBJECTIVE: To provide follow-up clinical, pathological, and genetic data for 9 patients in this family. DESIGN: Clinical histories and neurologic findings, gross and microscopic pathological features, and dna analysis. RESULTS: Clinical presentations in this closely followed up portion of the family include fairly uniform ataxic and upper motor neuron symptoms. Nystagmus was a conspicuous and early sign, but generational anticipation was not evident. Although often present, amyotrophy was not a major source of disability. Major pathological degeneration was noted in the pons, spinal cord, and upper brainstem, where ubiquitin-immunoreactive intranuclear inclusion bodies were demonstrated. The diagnosis of machado-joseph disease (SCA3 [spinocerebellar ataxia type 3] genotype) was established from autopsy tissue in 1 patient and from blood specimens in 6 others. CONCLUSIONS: Clinical variation within this family and between this family and families with the SCA1 and SCA3 genotypes is so broad as to make the genetic diagnosis from clinical criteria alone practically impossible. The pathological definition of machado-joseph disease is more reliable, but some findings do overlap those of other genotypes. To our knowledge, the basis for the phenotypic variations in machado-joseph disease, genetic or otherwise, has not been established.- - - - - - - - - - ranking = 0.66552913442831keywords = spastic (Clic here for more details about this article) |
10/82. Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum.We followed-up a Japanese man suffering from hereditary spastic paraplegia with a thin corpus callosum (HSP-TCC) by single photon emission computed tomography (SPECT) using 123IN-isopropyl-piodoamphetamine (123I-IMP) over 4 years (25 to 29 years old). Besides the initial symptoms of lower limb spasticity, mental deterioration slightly progressed and upper limb spasticity and slight cerebellar ataxia were developed, during the period. Cranial magnetic resonance imaging (MRI) revealed an extremely thin corpus callosum and medial frontal atrophy, which remained essentially unchanged during the period. 123I-IMP SPECT demonstrated that cerebral blood flow was decreased in the thalamus and the medial frontal, temporal and parietal cortices at the first examination, and that the thalamus showed further reduction but the other involved regions presented essentially no progression during the follow-up period. This is the first report referring to the longitudinal clinical and neuroradiological changes in HSP-TCC.- - - - - - - - - - ranking = 1.1646759852495keywords = spastic (Clic here for more details about this article) |
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