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PubMed1998

[Acute paraplegia. A rare complication of aortic dissection].

A 67 year-old normotensive woman had a syncope followed by shock and remained anuric after hemodynamic stabilization. Paraplegia and paresis of the right upper limb, as well as signs of ischemia of the distal lower limbs were noted. The possibility of acute aortic dissection was raised and confirmed by computed tomography. The paraplegia was attributed to an ischemic infarction of the spinal cord. The patient died on the fourth hospital day due to a pericardial temponade. This rare and not well recognized complication of aortic dissection is briefly reviewed.

Acute Disease↗

PubMed1998

[A case of autosomal dominant, pure form spastic paraplegia with thinning of the corpus callosum].

Autosomal dominant hereditary spastic paraplegia (HSP) is genetically classified into three types, all of which are characterized by insidiously progressive spasticity of the lower extremities. Patients with a complicated form of autosomal recessive HSP associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. Here we report a 64-year-old patient with a pure form of autosomal dominant HSP with thinning of the corpus callosum. He had been well until 12 years of age, when spasticity and weakness of the lower extremities began to develop. His symptoms gradually worsened and he had difficulty in walking at the age of 44. When he was 56 years old, he visited our hospital. Eleven family members over five generations have been affected, and anticipation, i.e., an apparent decrease in age of onset, has been observed. On admission, he had mild cataracts, equinovarus and pes cavus, and neurological examination revealed spastic paraplegia. However, the intelligence test was normal, and nystagmus, ataxia of the extremities, involuntary movement, orthostatic hypotension or urinary disturbance was not observed. Trinucleotide repeat diseases, such as Huntington's disease, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, Machado-Joseph disease and dentatorubral-pallidoluysian atrophy, were excluded by DNA analysis. Brain MRI at the age of 64 revealed marked thinning of the corpus callosum. We considered this patient had a pure form of HSP. However, thinning of the corpus callosum has never been reported in autosomal dominant HSP.

Adolescent↗

PubMed2000

Spinal aspergillosis in nonimmunocompromised host mimicking Pott's paraplegia.

The aim of this report is to highlight the less-known aspergillus spondylitis (AS) that may completely mimic Pott's paraplegia, leading to occasional but expensive diagnostic error, as the chemotherapeutic management of the two is different. A case of a patient with the diagnosis of Pott's paraplegia who turned out to have aspergillus spondylitis is described. Issues and difficulties regarding the differentiation between these two forms of spine infection and their therapeutic implications are discussed. We conclude that differential diagnosis of spinal tuberculosis (TB) should include aspergillus spondylitis, as cure of spinal aspergillosis, especially in early stages, is possible with surgery and/or antifungal agents, and morbidity and mortality are high in neglected cases.

Adult↗

PubMedDate not supplied

Traumatic rupture of the thoracic aorta presenting as transient paraplegia.

A patient involved in a high-speed motor vehicle accident presented paraplegic to the emergency department. He was noted to have an abnormal chest x-ray and, subsequently, underwent aortography which revealed aortic transection. The patient's paraplegia resolved spontaneously prior to definitive aortic repair hours later. Aortic rupture presenting as paraplegia is a rare association, but one an emergency physician should be cognizant of, especially in the case of blunt or decelerating trauma.

Adolescent↗

PubMed2003

Erdheim-Chester disease: a rare cause of paraplegia.

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. It is characterized by osteosclerosis of the metaphyseal regions of long bones and several extraskeletal manifestations. Clinically, it ranges from an asymptomatic focal process to systemic disease with life-threatening visceral involvement. Until now, only two cases of Erdheim-Chester disease with paraparesis have been reported. Herein we report the first case of Erdheim-Chester disease with the clinical manifestation of paraplegia. Our patient also had diabetes insipidus, pleural and pericardial effusion, retro-orbital and cavernous sinus masses, fibrotic changes in the retroperitoneal, perirenal, and periaortic areas, and epidural space-occupying lesions. We want to emphasize that ECD may be a very rare cause of paraplegia.

Journal Article↗

PubMed2003

Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.

Hereditary spastic paraplegias comprise a group of clinically heterogeneous syndromes characterized by lower extremity spasticity and weakness, with distal axonal degeneration in the long ascending and descending tracts of the spinal cord. The early onset hereditary spastic paraplegia SPG3A is caused by mutations in the atlastin/human guanylate-binding protein-3 gene (renamed here atlastin-1), which codes for a 64-kDa member of the dynamin/Mx/guanylate-binding protein superfamily of large GTPases. The atlastin-1 protein is localized predominantly in brain, where it is enriched in pyramidal neurons in the cerebral cortex and hippocampus. In cultured cortical neurons, atlastin-1 co-localized most prominently with markers of the Golgi apparatus, and immunogold electron microscopy revealed a predominant localization of atlastin-1 to the cis-Golgi. Yeast two-hybrid analyses and co-immunoprecipitation studies demonstrated that atlastin-1 can self-associate, and gel-exclusion chromatography and chemical cross-linking studies indicated that atlastin-1 exists as an oligomer in vivo, most likely a tetramer. Membrane fractionation and protease protection assays revealed that atlastin-1 is an integral membrane protein with two predicted transmembrane domains; both the N-terminal GTP-binding and C-terminal domains are exposed to the cytoplasm. Together, these findings indicate that the SPG3A protein atlastin-1 is a multimeric integral membrane GTPase that may be involved in Golgi membrane dynamics or vesicle trafficking.

Amino Acid Sequence↗

PubMed1990

Intradural herniation of a thoracic disc presenting as flaccid paraplegia: case report.

A case of intradural herniation of a thoracic disc in a patient with a flaccid paraplegia is described. Intradural herniation of a thoracic disc is considered a rare event. A review of the relevant patient literature revealed 14 other reports involving 28 patients. No other report has described a patient with an intradural thoracic disc herniation who developed a flaccid paraplegia.

Aged↗

PubMed1996

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated. The pure form is characterized by spasticity and gait difficulties but lacks the additional features (nystagmus, dysarthria, mental retardation) present in the complicated form. The complicated form is heterogeneous, caused by mutations of the L1CAM gene at Xq28 (SPG1) or the PLP gene at Xq22 (SPG2) that is allelic to Pelizaeus-Merzbacher disease (PMD). Since in one kindred (K313) the pure form of HSP was also mapped to Xq22, this raises the issue as to whether a pure form of HSP exists that is allelic to X-linked complicated HSP (SPG2) and PMD. To answer this question, we carried out linkage analysis in a new pedigree with pure HSP (K101) and refined linkage in pedigree K313. The PLP gene was also screened for mutation by direct sequencing and reverse-transcriptase polymerase chain reaction (RT-PCR). In both families, the disease locus mapped to Xq22 with Lod scores at zero recombination of 5.3 for COL4A5 2B6 in K313 and 2.4 for DXS101 in K101. A T to C transition in exon 5 of the PLP gene was identified from affected individuals of K313. This transition causes a Ser to Pro mutation in the major extracellular loop of PLP/DM20. This finding demonstrates that a form of X-linked pure spastic paraplegia, X-linked complicated HSP (SPG2) and PMD are allelic disorders. There was no evidence of mutations in either coding sequences or the intron/exon junctions of PLP in pedigree K101, suggesting that the disease-producing mutation may be in the noncoding portions of PLP or in a nearby gene.

Adult↗

PubMed1993

[Paraplegia associated with HTLV 1 in Martinique. Study of 271 cases including 70 with neuromuscular involvement].

To date, 271 cases of HTLV1-associated paraplegia have been observed in Martinique (French West Indies). The clinical picture consisted mostly in a spastic paraparesis or paraplegia with sphincter disturbances (80%) and lower limbs pains (60%). The severity of the disease appeared variable: after a mean disease duration of 6.5 years, 40% of the patients could walk without help, 35% used a single crutch, and 25% used a couple of crutches or were confined to a wheelchair. A variable neuromuscular component was observed in 70 cases (25.4%). In 38 cases, the peripheral signs (SIGNS) or the myositis were only mild. In contrast, 25 patients presented with severe amyotrophy evoking amyotrophic lateral sclerosis, and 7 other had features of dermatopolymyositis. Lastly, an extra-neural spreading of the disease was extremely frequent, including lymphocytic alveolitis (76%), sicca syndrome (69%) and more rarely uveitis, arthritis or vasculitis.

Adolescent↗

PubMed2006

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

BACKGROUND: To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been identified as the molecular cause of early-onset autosomal dominant hereditary spastic paraparesis (ADHSP). OBJECTIVE: To assess the genetic defect in a family with late-onset ADHSP. PATIENTS AND METHODS: Only the proband agreed to undergo complete neurological testing and mutational analysis. The proband was screened for mutations in the spastin, atlastin, NIPA1, and KIF5A genes, either by denaturing high-performance liquid chromatography or sequence analysis. RESULTS: The history of the family was consistent with ADHSP characterized by late onset of the disease. Mutational analysis results were negative for the spastin, atlastin, and NIPA1 genes but identified a missense mutation (c.1082C>T) in the coiled-coil coding region of the KIF5A gene. CONCLUSIONS: This finding enlarges the phenotypic spectrum of ADHSP linked to KIF5A and enhances the role of that gene in the epidemiology of this disease. We propose that the KIF5A gene should be routinely analyzed in patients with hereditary spastic paraplegia negative for spastin and atlastin mutations.

Age of Onset↗

PubMed2006

Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia.

Based on its action on multiple neurotransmitters, including dopamine, methylphenidate (MPH) is of growing interest as a possible treatment option for several movement disorders. Of special interest are diseases that share gait disturbance and cognitive decline. Based on a single case observation in a patient with hereditary spastic spinal paraplegia (HSP) in which gait was improved with MPH, we performed an open-label study with a longitudinal follow-up in 22 patients with HSP and its sporadic form (SSP). The patients were treated for 6 months with 60 mg of MPH per day. Computerized gait analysis and different scores were performed at baseline, after 6 weeks, and after 6 months of treatment. Although at 6 weeks, the gait velocity was somewhat improved, the drug failed to show any effect on other gait parameters and had no beneficial effect at all after 6 months. Although MPH is of interest for several movement disorders, our study did not show a beneficial effect.

Adenosine Triphosphatases↗

PubMed1995

[Differential diagnostic aspects of progressive spastic paraplegia in adults with emphasis on neurometabolic diseases].

The differential diagnosis of a progressive spastic paraparesis in the young adult is broad and includes rare neuro-metabolic diseases like cerebro-tendinous xanthomatosis, adrenomyeloneuropathy and hypovitaminosis. Their clinical presentation as well as the result of paraclinical examinations can be similar to those of multiple sclerosis. The early recognition of these diseases is important, because a dietary regimen may reduce the severity and progression of symptoms and signs and genetic counselling can be important. The relevant biochemical examinations for their detection are discussed. These neuro-metabolic diseases have to be differentiated from other neuro-degenerative diseases like amyotrophic lateral sclerosis and hereditary spastic paraplegias.

Adrenoleukodystrophy↗

PubMed1976

Schistosomiasis. Paraplegia and ectopic skin lesions as admission symptoms.

A 33-year-old man, who had been a teacher in Africa from 1966 to 1969, was hospitalizaed in December 1973 for radiculomyelitis with progressive paraplegia and analgesia of the lower limbs. On his fourth day in the hospital, a pruritic, papular dermatitis appeared on both lower thoracic paraspinal areas. Microscopical examination of biopsy specimens of skin from those areas showed schistosome ova within many palisading granulomas in the dermis. The morphological features of the skin lesions, as seen by gross and microscopical examination, and the morphological and staining characteristics and the pathophysiology of the schostosome organism will be discussed. The longevity of the adult worm in the portal circulation is particularly important; a long interval may elapse between the time the patient leaves the area where he became infected and the time of appearance of the lesions.

Adult↗

PubMed1979

Peripheral nerve involvement in familial spastic paraplegia.

A sural nerve biopsy specimen was obtained from a 16-year-old girl affected by a clinically uncomplicated form of familial spastic paraplegia. The electron microscopic study evidenced degenerative changes in some large myelinated fibers. Onion bulb formations and clusters of small myelinated fibers were also observed. Quantitative determinations showed a decreased density of the large myelinated fibers and a mild decrease in the percentage of the endoneural area covered by the myelinated fibers. The unmyelinated fibers were uninvolved except for their participation in onion bulb formations.

Adolescent↗

PubMed1980

Spinal cord compression with paraplegia in myelofibrosis.

Paraplegia developed in a 70-year-old man with a 15-year history of polycythemia rubra vera and a two-year history of myelofibrosis, due to extensive epidural involvement by extramedullary hematopoiesis. Early diagnosis and aggressive therapy is essential if permanent paralysis is to be avoided.

Adolescent↗

PubMed1988

Reflex inhibition of urethral sphincters to permit voiding in paraplegia.

When the spinal motoneurons innervating the external sphincter of the urethra cannot be inhibited voluntarily due to lesions of the spinal cord, the normal capacity to relax this physiologic valve during micturition is lost. Even if contractions of the bladder occur, urinary outflow may be completely blocked at the sphincter, leading to distention of the bladder and the risk of urinary infection. A method is described for controllably relaxing the sphincter, which permits free outflow of urine in paraplegic cats. One pudendal nerve is sectioned, paralyzing half of the sphincter, but leaving the experimental animals entirely continent. The motoneurons supplying the other half of the sphincter are inhibited by means of spinal reflexes, eliminating active resistance to urethral flow. The simplicity of this approach suggests that it may prove equally effective in human paraplegia.

Animals↗

PubMed1999

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. OBJECTIVE: To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. RESULTS: Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure lateonset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. CONCLUSIONS: Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.

Adolescent↗

PubMed2002

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

BACKGROUND: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity and weakness of the lower limbs. The most common form of HSP is caused by mutations in the SPG4 gene, which codes for spastin, an adenosine triphosphatase with various cellular activities (AAA) protein family member. OBJECTIVE: To investigate a large collection of predominantly North American patients with HSP for mutations in the spastin encoding gene, SPG4. METHODS: DNA from 76 unrelated affected individuals was studied for mutations by single-stranded conformational polymorphism analysis and direct sequencing. Each new variant identified was then analyzed in 80 control subjects to determine whether the variant is a common polymorphism or a rare mutation. All DNA samples were amplified by polymerase chain reaction, followed by electrophoresis and autoradiography. RESULTS: We identified 8 novel mutations and 5 previously reported mutations in 15 affected individuals. The novel mutations are 4 missense, 1 nonsense, 1 frameshift, and 2 splice mutations. Two polymorphisms (one in an affected individual) were also identified. CONCLUSIONS: Our collection of families with HSP is different on a genetic level from those previously described. The percentage of our families with a SPG4 mutation is 10% lower than the 40% estimate of families with autosomal dominant HSP noted to be linked to this locus, and splice mutations are not predominant in our collection. Interestingly, we also identified 2 recurring mutations in specific populations (R562Q and G559D), which may facilitate the development of future spastin diagnostic testing in these populations.

Adenosine Triphosphatases↗