Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature

Symptomatic neurosyphilis (NS) can have varied syndromic presentations: Meningitis, meningovascular and parenchymatous involvement. Non-tabetic syphilis affecting the spinal cord is rare and only sporadic case reports have been published. The variant of meningomyelitis known as Erb''s paraplegia refers to patients of spinal syphilis with very slow progression over many years and predominantly motor signs. Primary optic atrophy occurs twice as frequently in tabes dorsalis as in other types of NS. We describe here a case of a 32-year-old truck driver who presented with Erb''s paraplegia with primary optic atrophy. This clinical overlap in NS is extremely rare and to our knowledge is the first case report of its type.     

Spastic paraplegia,epilepsy, and mental retardation in several members of a family: A novel genetic disorder

We report on a family in which an association between spastic paraplegia and epilepsy has been observed. This disorder is an autosomal dominant trait with incomplete penetrance and variable expressivity. The onset was limited to the first four decades of life; the symptoms were typically those of progressive weakness and spasticity of lower limbs. Epilepsy was present in members of three of the four generations on whom we have information. The concomitance of spastic paraplegia and epilepsy in several members of the same family is unlikely to be fortuitous and probably represents the pleiotropic effect of a single mutant gene. © 1993 Wiley-Liss, Inc.     

Paraplegia following intraoperative celiac plexus injection

The technique for percutaneous and open neurolytic celiac plexus injection, using ethanol or phenol, for relief of intractable pancreatic cancer pain has been well described. Prospective randomized studies, demonstrating safety and efficacy with few complications, have led to widespread acceptance and use of this palliative procedure. The complications of neurolytic celiac plexus injection are rare, and are usually minor. However, transient or permanent paraplegia has been reported previously in 10 cases. The case described herein represents the third reported case of permanent paraplegia following open intraoperative neurolytic celiac plexus injection using 50% ethanol. The literature surveying the indications for this procedure, routes of administration, known complications, and their pathophysiology are reviewed.     

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3. Received: 14 November 2001, Received in revised form: 8 April 2002, Accepted: 23 April 2002 Correspondence to A. Quattrone, MD     

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

We studied nine Italian families with a pure form of autosomal dominant spastic paraplegia (ADHSP) to assess the frequency of mutations in the SPG4 gene. We observed marked intrafamilial variability in both age-at-onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55 years to healthy carriers of the mutation after age 70. Four of nine probands harboured SPG4 mutations, We identified three new SPG4 mutations, all predicting a loss-of-function with apparently important consequences for spastin function. RT-PCR studies predict loss-of-function as a possible mechanism leading to spastin-related HSP. The current study expands the spectrum of allelic variants in SPG4, confirming their pathological significance in pure AD-HSP and suggesting implications for the presumed function of spastin. Received: 15 December 2000, Received in revised form: 29 May 2001, Accepted: 18 June 2001     

The respective contribution of lumbar segments to the generation of locomotion in the isolated spinal cord of newborn rat

Various studies on isolated neonatal rat spinal cord have pointed to the predominant role played by the rostral lumbar area in the generation of locomotor activity. In the present study, the role of the various regions of the lumbar spinal cord in locomotor genesis was further examined using compartmentalization and transections of the cord. We report that the synaptic drive received by caudal motoneurons following N-methyl-d-l-aspartate (NMA)/5-HT superfusion on the entire lumbar cord is different from that triggered by the same compounds specifically applied on the rostral segments. These differences appear to be due to the direct action of NMA/5-HT on motoneuron membrane potential, rather than on premotoneuronal input activation. In order to assess the possible participation of the caudal lumbar segments in locomotor rhythm generation, the segments were over-stimulated with high concentrations of NMA or K+. We find that significant variations in motor cycle period occurred during the over-activation of the rostral segments. Over-activation of caudal segments only si+gnificantly increased the caudal ventral roots burst amplitude. We find that low 5-HT concentrations were unable to induce fictive locomotion under our experimental conditions. When a hemi-transection of the cord was performed between the L2-L3 segments, rhythmic bursting in the ipsilateral L5 disappeared while rhythmicity persisted on the contralateral side. Sectioning of the remaining L2-L3 side totally suppressed rhythmic activity in both L5 ventral roots. These results show that the thoracolumbar part of the cord constitutes the key area for locomotor pattern generation.     

Aortic occlusion by a balloon catheter: A method to induce hind limb rigidity in rats

Post-ischaemic spinal extensor or flexor rigidity can be induced in different species by clamping or ligature of the descending aorta after thoracotomy or laparotomy. A similar motor deficit can also be induced by an intraluminal aortic occlusion produced by inflation of a balloon attached to the tip of a catheter inserted via the femoral artery. This method is easy to perform and avoids all the possible complications of thoracotomy or laparotomy. In rats the occlusion time for obtaining the maximum percentage of animals exhibiting a permanent hind limb extensor (62.5%) or flexor (12.5%) rigidity was 15–16 minutes. A marked depression of hind limb sensory perception accompanied this rigidity but there were no urinary, bowel or skin disturbances. The unilateral femoral ligation following the catheterization did not induce a difference in muscle tone between both hind limbs. The present procedure which is simpler than other published procedures might thus serve as a useful animal model for spastic paraplegia.     

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of the central nervous system (CNS). Both PMD and SPG2 are caused by mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major component of CNS myelin proteins. Distinct types of mutations, including point mutations and genomic duplications and deletions, have been identified as causes of PMD/SPG2 that act through different molecular mechanisms. Studies of various PLP1 mutants in humans and animal models have shed light on the genomic, molecular, and cellular pathogeneses of PMD/SPG2. Recent discoveries include complex mutational mechanisms and associated disease phenotypes, novel cellular pathways that lead to the degeneration of oligodendrocytes, and genomic architectural features that result in unique chromosomal rearrangements. Here, I review the previous and current knowledge of the molecular pathogenesis of PMD/SPG2 and delineate future directions for PMD/SPG2 studies.