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PubMed1995

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia.

Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its "pure" form generally of autosomal dominant inheritance pattern. Hazan et al. [Nat Genet 5:163-167, 1993] reported tight linkage of a large FSP family to the highly polymorphic microsatellite marker D14S269 with z (theta) = 8.49 at theta = 0.00 They further demonstrated evidence for locus heterogeneity when they showed that 2 FSP families were unlinked to this region. We have subsequently studied 4 FSP families (3 American, one British) and excluded the disease locus in these families for approximately 30 cM on either side of D14S269, thereby confirming evidence for locus heterogeneity within the spastic paraplegia diagnostic classification.

Chromosomes, Human, Pair 14↗
PubMed2002

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. We report on an Italian family affected by ADPHSP for which we excluded linkage with the known loci and performed a genome-wide search. Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19. The phenotype was characterized by late onset (range, 36-55 years) and mild disability, with only 1 patient bound to a wheelchair after 31 years of disease. Urinary disturbances (urgency and/or incontinence) were always present, even in young patients with a short disease history.

Adolescent↗
PubMed2003

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.

Adult↗
PubMed2005

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old. We performed a genome-wide screen including 25 affected individuals and 49 of their unaffected relatives. Linkage was detected at 11q13 region with a maximum logarithm of odds score of +14.43, obtained with marker D11S1883. The candidate region, which lies between D11S1908 and D11S1889, encompasses approximately 4.8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN (spastic paraplegia, optic atrophy, and neuropathy) for this complex syndrome.

Abnormalities, Multiple↗
PubMed2005

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

We have updated the clinical description of a large Scottish pedigree, in which patients were affected by spastic paraplegia complicated by hearing impairment and persistent vomiting due to hiatal hernia inherited as an autosomal dominant trait. Using a genome-wide mapping approach, we identified a novel locus (SPG29) for this form of hereditary spastic paraplegia on chromosome 1p31.1-21.1 and narrowed it to 22.3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7), involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations.

Adolescent↗
PubMed2004

Recurrent paraplegia after remyelination of the spinal cord.

We have conducted a long-term study of spinal cord morphology and motor function recovery in rats that have undergone lumbar spinal demyelination induced by the B-fragment of cholera toxin (CTB)-saporin. We found that, after the initial demyelination and paraplegia, motor function recovered and was stable for up to 9 months, after which there occurred a slow deterioration of motor function accompanied by loss of motoneurons and loss of spinal white matter. A striking morphological feature was the appearance of large spheroids of calcium in the ventral and dorsal horns and occasionally in the white matter. Motor performance deterioration occurred earlier and was more severe in rats that had been exercised on a treadmill, but the same morphological changes occurred in both exercise- and nonexercise-treated animals. Rats given treadmill exercise starting 3 weeks after toxin injection had a mean motor deficit score of 3.0 (i.e., paraplegia) at perfusion, whereas the nontreadmill-treated rats had a mean score of 1.8 (SD 0.38; n = 6; P <.05). These findings suggest that, in addition to the acute effects of the toxin-induced demyelination from which there is recovery of motor function, there are chronic irreversible effects of the toxin, or the initial demyelination, that cause a slow progressive degeneration of the spinal cord. This model might therefore be useful in studying the long-term effects of spinal insult of the type associated with conditions such as postpolio syndrome.

Animals↗
PubMed2004

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.

We report on a Friedreich's ataxia (FA) family with 3 affected siblings with markedly different phenotypic presentations, including one with spastic paraplegia. Molecular analysis showed midsize GAA repeat expansion sizes in all 3 individuals. Gait spasticity in FA, although rare, has been described in a few patients who are compound heterozygotes for a point mutation, or who had GAA expansions of less than 200 repeats. The occurrence of spastic paraplegia in our family, in the presence of homozygous midsize GAA repeat expansions, is an unusual finding. Spasticity can be the main feature in both sporadic and familial patients with FA, either as an isolated finding, or in addition to other neurological abnormalities, and should be included as a rare feature in the clinical spectrum of FA. This family also demonstrates that in FA, marked intrafamilial phenotypic variability can arise in the presence of similar GAA expansion sizes. Therefore, in familial FA, the disease course in relatives therefore cannot be predicted solely from repeat length. Factors such as somatic mosaicism, repeat interruptions, modifying mutations and environmental factors must also be considered.

Adult↗
PubMed2001

Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.

The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases. The protein encoded by SPG7, paraplegin, shows high homology to members of this protein family. Recently, many mammalian ATP-dependent zinc metalloproteases have been identified and considered as possible candidates for defects in other forms of hereditary spastic paraplegia and possibly other neurodegenerative disorders. So far only a partial sequence has been available for one of those genes, ATPase family gene-3, yeast-like-1 (AFG3L1). We have carried out detailed molecular analysis of this gene and identified and characterized its mouse orthologue, Afg3l1. Our data indicate that AFG3L1 is transcribed into four mRNA isoforms that are not translated in humans. Afg3l1 encodes a protein with high homology to paraplegin and the other members of the ATP-dependent zinc metalloprotease family. Like the other ATP-dependent zinc metalloproteases, Afg3l1 localizes to the mitochondria.

3T3 Cells↗
PubMed1988

Paraplegia due to epidural infiltration in a case of chronic lymphocytic leukemia.

A case of chronic lymphocytic leukemia (CLL) is described during the course of which paraplegia appeared caused by epidural compression of the tissue by leukemic cells. This complication in CLL is rare. The disorders of the nervous system during the course of leukemia are summarized, and, in particular, the circumstances pertaining to the occurrence of paraplegia during chronic lymphocytic leukemia.

Humans↗
PubMed1993

Influence of posture on arm exercise tolerance and physiologic responses in persons with spinal cord injured paraplegia.

This study compared metabolic and cardiopulmonary responses to incremental supine and upright sitting arm crank ergometry (ACE) in nine men with spinal cord injured paraplegia ranging from T1-T5. Both tests consisted of continuous graded ACE from rest to volitional fatigue on a modified electronically braked cycle ergometer with the work rate increased by 8.2 W.min-1. No significant differences (P > 0.05) existed for peak ACE power output (W), oxygen uptake, pulmonary ventilation, respiratory exchange ratio, and O2 pulse between the two tests. Heart rate and O2 pulse responses at six submaximal work rates representing 0-58% peak W were also not significantly different between postures. These data indicate that ACE tolerance in persons with high-lesion paraplegia was not enhanced when ACE was performed in the supine posture.

Adult↗
PubMed1981

Pott's paraplegia: a clinical review of operative and conservative treatment in 63 adults and children.

Two hundred and twenty patients with active spinal tuberculosis were seen at the Orthopaedic Centre, Tunis, between 1965 and 1975. Fifty adults and 11 children were paraplegic, this being particularly associated with infection of the mid-thoracic spine and with marked kyphosis. The number of diseased vertebrae ranged up to 7, the average kyphosis measuring 53 degrees and the worst being 140 degrees. Patients had been paralysed for an average of 4 months before seeking treatment. Thirty seven patients were treated by chemotherapy alone and 26 with the addition of anterior decompression and grafting. The selection of treatment was arbitrary. The average follow up was nearly three years. Sixty eight percent of the medical group had complete neurological recovery and 19% partial recovery, against 38% and 31% respectively for the surgical group. Mortality in the medical group was 5% compared with 23% after surgery. Patients in either group who showed no sign of improvement within six months of the beginning of treatment failed to recover. The prognosis was better in children and in patients with partial paraplegia but was not influenced by the duration of paraplegia.

Adolescent↗
PubMed1995

Primary osteosarcoma of the L2 lamina presenting as "silent" paraplegia: case report and review of the literature.

Primary osteosarcomas of the vertebral column are not common, and to our knowledge a total of 78 cases, mostly located in the vertebral body, have been previously reported. We report a primary osteosarcoma of the spine with an extremely rare location--the lamina of the second lumbar vertebra. The patient, a 38-year-old woman, was admitted with paraplegia of a short duration without pain. Preoperatively, the patient underwent CT scanning for staging (Enneking IIB) followed by a needle biopsy and local preoperative arterial embolization. An emergency decompressive laminectomy was performed, and stabilization was carried out using methylacrylate. The patient showed a complete neurologic recovery. Combined chemotherapy and local irradiation did not prevent tumor recurrences, which occurred 12 and 19 months after the initial intervention and were associated with recurrent neurologic impairment. The patient died 19 months after the initial presentation, while in paraplegia, from lung metastases. Based on our unique observation, it seems that in primary osteosarcomas located in the posterior elements of the spin, the symptoms are not specific, and the disease may only become manifest when the tumor is no longer resectable. When the tumor is associated with neurologic impairment, spinal canal decompression should be performed even though it does not radically resect the tumor because it significantly improves the quality of the patient's life.

Adult↗
PubMed1993

Paraplegia due to osteitis fibrosa secondary to primary hyperparathyroidism: report of a case.

A case of primary hyperparathyroidism associated with osteitis fibrosa cystica presenting as paraplegia is described herein. The symptom complex of normocalcemic hyperparathyroidism with osteitis fibrosa cystica is a distinctly rare entity and to the best of our knowledge, this is the first case report of the normocalcemic variant of primary hyperparathyroidism presenting with paraplegia as a complication.

Adult↗
PubMed1976

Spastic paraplegia associated with Addison's disease: adult variant of adreno-leukodystrophy.

Clinical and pathological features of an adult variant of adreno-leukodystrophy (ALD) are presented. A male with clinical and laboratory signs of Addison's disease (AD) developed at age 22 a slowly progressing paraplegia with slight sensory deficits in both legs and bladder and sphincter dysfunctions; he died at age 24 in an AD crisis. Autopsy revealed hyperplasia of lymphatic tissues, lymphocytic infiltrates in various organs including the CNS and adrenocortical atrophy with prominence of large ballooned, sometimes bizarre and occassionally striated cortical cells. CNS lesions consisted in incomplete demyelination of long tracts of brain stem and spinal cord with accentuation in the pyramical tracts; in these areas, perivascular cuffs of "epitheloid" histiocytic cells contained a strongly PAS-positive non-sudanophilic material. Electron microscopy demonstrated massive stroge of leaflet structures in perivascular histiocytes identical to the lamellar profiles previously described as specific for ALD. Some leaflets were found in close contact with compact lamellar arrays and with an electron-dense fingerprint material within astrocytes. In our case, the spastic paraplegia-AD syndrome which has been described previously in several clinical observations could be neuropathologically classified as an adult variant of ALD. Several differences to "classical" ALD occurring in young boys are stressed: the predominance of the endocrine disorder probably accounting for some of the perivascular lymphocyte infiltrates within the CNS; the absence of both clinical and pathological signs of diffuse cerebral involvement and the peculiar topistic pattern of CNS lesions and the very slow evolution of neurological signs paralleled by the absence of active sudanophilic demyelinating lesions. The possible mechanism of demyelination and the nature of the suggested metabolic defect in ALD are discussed. The ultrastructurally prominent leaflet structures may originate from myelin remnants, thus relating ALD to pathological storage of a myelin degradation product.

Addison Disease↗
PubMed1993

Posterior tibial nerve somatosensory evoked potentials in slowly progressive spastic paraplegia: a comparative study with clinical signs.

Clinical and neurophysiological examinations were performed on seven patients with hereditary spastic paraplegia and on eight patients with primary lateral sclerosis. The results were compared with those obtained from a group of 39 control subjects. Prolonged latency times and decreased amplitudes of the posterior tibial nerve (PTN) somatosensory evoked potentials (SEPs) were found in the majority of the patients. The SEP changes occurred without sensory impairment or with loss of vibration sense only. There was no significant relation between the PTN SEP abnormalities and the severity of pyramidal signs for the whole patient group, nor longitudinally for the individual subjects. Analyses of PTN SEPs in patients suffering from slowly progressive spastic paraplegia (SP), therefore, seem to be a method to indicate a feature of spinal cord dysfunction that is not related to the severity of clinical signs. Considering the neuropathology of the spinal cord in SP patients, we furthermore argue that the ascending spinal pathway involved in conducting impulses for PTN SEPs probably uses other routes as well as the funiculus gracilis.

Adolescent↗
PubMed1992

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.

An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10(-5) inhabitants (95% confidence limits 4.8-11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia.

Adolescent↗
PubMed1987

Spontaneous dorsal epidural haematoma: usefulness of magnetic resonance imaging and importance of operative treatment even in cases with complete paraplegia.

Spontaneous epidural haematomas are rare at any level of the spinal canal. The radiological diagnosis is usually made by myelography and in a few reported cases by computed tomography (CT). We describe a patient in which the final diagnosis was possible only with Magnetic Resonance Imaging (MRI). Surgical evacuation resulted in partial recovery of an already four days existing complete paraplegia. It is stressed that MRI is the most useful examination to differentiate haematomas from other spinal epidural lesions and that an operative evacuation of a spinal epidural haematoma is indicated even if the patient comes after a complete paraplegia has developed.

Aged↗