Machado-Joseph disease versus hereditary spastic paraplegia: case report

Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.

Trabalho resistido adaptado visando a independencia de pessoas com paraplegia nas suas atividades de vida diaria

Universidade Estadual de Campinas . Faculdade de Educação Física

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index, which evaluate several functional aspects, was more sensitive to disclose disease progression than the spastic paraplegia scales. Spasticity showed a bimodal distribution, with both grades 1 (minimum) and 4 (maximum). Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming.

Idiopathic spinal epidural hematoma in patients with sudden paraplegia: A case report

Introduction. Spontaneous spinal epidural hematoma (SEH) represents 0.3-0.9% of spinal epidural space-occupying lesions, and most surgeons advocate aggressive and early surgical intervention. In. this paper we describe a patient with SEH with sudden paraplegia. Case report. This 30-year-old man had experienced one prior episode of sudden dorsal pain two days before the current admission and while he waited medical attendance, his legs suddenly became weak, and immediately afterwards, he became completely paraplegic in minutes. The patient had complete paraplegia, analgesia below the T4 level and urinary retention. He had no anticoagulant agent and no coagulopathic disease. He was submitted to computerized tomography that demonstrated a dorsally located epidural hematoma extending from the T3 to the T6 level with spinal cord compression. A laminectomy from T3 to T7 was performed four hours after the onset of the symptom. In postoperative time the patient presented the partial sensorial recovery and motor force grade II. The patient was directed to a neurorehabilitation program and in the last medical evaluation he presented recovery for motor grade III-IV without pain. Conclusion. The SHE is rare, with severe neurological consequences for patients and early surgical treatment persist as essential for motor recovery.

Evaluation of the influence of different types of seats on postural control in individuals with paraplegia

Study design: Cross-sectional study. Objectives: To assess the importance of proprioceptive and vision information on different types of wheelchair seats with regard to postural control in paraplegic individuals during static posture. Setting: Centre of Rehabilitation at the University Hospital/FMRP-USP and Rehabilitation Outpatient Clinic at University Hospital/UNICAMP, Brazil. Methods: This study involved 11 individuals with paraplegia. All individuals were submitted to an evaluation of static balance with their eyes open and closed in three different types of seats: wheelchair seat, foam seat and gel seat. Balance evaluation was performed by using the Polhemus system, in which body displacements and anteroposterior and mediolateral speeds were assessed in a static seated position in the different types of seats. Data were analyzed using analysis of variance. The differences were considered at P<0.05. Results: No statistical differences were found between the three types of seats in terms of displacements and anteroposterior and mediolateral speeds, or between seats with individuals keeping their eyes open or closed (P>0.05). However, it was observed that body displacements were more prominent toward an anteroposterior than a mediolateral direction. Conclusion: This study suggests that individuals with paraplegia tend to exhibit a more anteroposterior body displacement than a mediolateral one, with no significant differences between the types of seats in both situations of eyes open and closed. Spinal Cord (2010) 48, 825-827; doi:10.1038/sc.2010.30; published online 30 March 2010

Comparison between the spastic paraplegia rating scale, Kurtzke scale, and Osame scale in the tropical spastic paraparesis/myelopathy associated with HTLV

INTRODUCTION:The objective of this study was to compare Osame's scale of motor incapacity and the expanded scale of the state of incapacity of Kurtzke with the spastic paraplegia rating scale for the clinical evaluation of patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). METHODS: Patients with the diagnosis of infection by HTLV-I/HTLV-II and with the clinical suspicion of HAM/TSP were included in the study. RESULTS: There were 45 patients who were evaluated. When analyzing the results of the scales, the researchers found the following averages of 21.08 points for the spastic paraplegia rating scale, 4.35 points for Osame's scale, and 4.77 points for Kurtzke's scale. The relation between the scale of paraplegia with Osame's was very significant with p < 0.0001, and regarding Kurtzke's scale, there was a similar result of p < 0.0001. When comparing Osame's, Kurtze's, and the spastic paraplegia rating scale with the time of disease, the researchers found a significant result of p = 0.0004 for the scale of spastic paraplegia, p = 0.0018 for Osame's scale, and p < 0.0001 for Kurtzke's scale. CONCLUSION: The spastic paraplegia rating scale has a good relation with Osame's and Kurtzke's scales showing a p index that is very significant that indicates that, although the scale was not initially made to be applied to patients with HAM/TSP because of the infection by HLTV, it showed to be as efficient as Osame's and Kurtzke's scales in evaluating the patients' neurological conditions.

Paraplegia aguda. Uma complicação rara da dissecção aórtica

Mulher normotensa de 67 anos desenvolveu síncope, seguida de choque, e, mesmo após estabilização hemodinâmica, permaneceu anúrica. Observaram-se paraplegia e paresia do membro superior direito, além de isquemia das extremidades distais dos membros inferiores. A hipótese de dissecção aórtica aguda foi considerada e confirmada através de tomografia computadorizada, tendo sido a paraplegia atribuída a infarto isquêmico da medula espinhal. Óbito ocorreu no 4º dia de evolução, conseqüente a tamponamento pericárdico. São revistas as dificuldades diagnósticas relacionadas a manifestações pouco conhecidas da dissecção aórtica, enfatizando-se, como complicação rara, a paraplegia aguda.

Paraplegia following intraaortic balloon circulatory assistance

Intraaortic balloon counterpulsation is frequently used in patients experiencing severe ventricular dysfunction following maximal drug therapy. However, even with the improvement of percutaneous insertion techniques, the procedure has always been followed by vascular, infectious, and neurological complications. This article describes a case of paraplegia due to intraaortic balloon counterpulsation in the postoperative period of cardiac surgery.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

BACKGROUND Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. METHODS We defined the SPAST and ATL1 mutational spectrum in a total of 370 unrelated HSP index cases from Spain (83% with a pure phenotype). RESULTS We found 50 SPAST mutations (including two large deletions) in 54 patients and 7 ATL1 mutations in 11 patients. A total of 33 of the SPAST and 3 of the ATL1 were new mutations. A total of 141 (31%) were familial cases, and we found a higher frequency of mutation carriers among these compared to apparently sporadic cases (38% vs. 5%). Five of the SPAST mutations were predicted to affect the pre-mRNA splicing, and in 4 of them we demonstrated this effect at the cDNA level. In addition to large deletions, splicing, frameshifting, and missense mutations, we also found a nucleotide change in the stop codon that would result in a larger ORF. CONCLUSIONS In a large cohort of Spanish patients with spastic paraplegia, SPAST and ATL1 mutations were found in 15% of the cases. These mutations were more frequent in familial cases (compared to sporadic), and were associated with heterogeneous clinical manifestations.

Recovery of paraplegia after type B dissection due to spinal collateral recruitment.

Acute paraplegia could be a symptom of aortic dissection due to sudden compromise of arterial spinal cord blood supply. Complete spontaneous neurologic recovery is possible and was observed in the present case 3 hours after symptom onset. Spontaneous spinal cord reperfusion after acute type B dissection was probably due to two main mechanisms. Reperfusion of false lumen and collateral vascular network recruitment, recently confirmed by anatomic animal studies, serve as potential explanations. Favorable evolution of acute paraplegia after aortic dissection exists, but prognosis is uncertain, probably due to individual variable anatomic distribution of spinal cord blood supply.

The experience of identity transformation process for people living with tetraplegia and paraplegia = El proceso de reconstrucción de la identidad de las personas afectadas de una paraplejia o tetraplejia

A spinal cord injury (SCI) is perceived as a source of biographical disruption, not only at a physical level but also in terms of people’s life stories, their motivation and their self-esteem. The aim of this study is to explore the factors that people with spinal cord injuries perceive as contributing to rebuilding their sense of self. Two focus groups were established from the SCIcommunity, one of which was made up of 14 people with paraplegia and the other of 9 people with tetraplegia. In addition, four individual interviews were conducted with the participants. The results of content analysis show that the two most prominent factors in the process of identity renegotiation are the partial transformation of the subject’s identity followed by a coming to terms with that new identity. To rebuild self-worth, the importance of finding a balance between change and continuity was identified. Renegotiation of identity after a spinal cord injury is a complex phenomenon that greatly influences the SCI individual’s quality of life perceptions. Reaching a balance between the changes experienced due to the injury and finding a sense of continuity can be either facilitated or obstructed by the economic, political, legal, architectural, and social context

Catecholamine response to exercise in individuals with different levels of paraplegia

The purpose of this study was to investigate the effect of the level of injury on the serum level of norepinephrine (Nor) and epinephrine (Epi) at rest and after maximal exercise in individuals with paraplegia. Twenty-six male spinal cord-injured subjects with complete paraplegia for at least 9 months were divided into two groups of 13 subjects each according to the level of injury, i.e., T1-T6 and T7-T12. Serum Nor and Epi concentrations were measured by HPLC-ECD, at rest (PRE) and immediately after a maximal ergospirometric test (POST). Statistical analysis was performed using parametric and non-parametric tests. Maximal heart rate, peak oxygen uptake, and PRE and POST Nor were lower in the T1-T6 than in the T7-T12 group (166 ± 28 vs 188 ± 10 bpm; 18.0 ± 6.0 vs 25.8 ± 4.1 ml kg-1 min-1; 0.54 ± 0.26 vs 0.99 ± 0.47 nM; 1.48 ± 1.65 vs 3.07 ± 1.44 nM). Both groups presented a significant increase in Nor level after exercise, while only the T7-T12 group showed a significant increase in Epi after exercise (T1-T6: 0.98 ± 0.72 vs 1.11 ± 1.19 nM; T7-T12: 1.24 ± 1.02 vs 1.89 ± 1.57 nM). These data show that individuals with paraplegia above T6 have an attentuated catecholamine release at rest and response to exercise as compared to subjects with injuries below T6, which might prevent a better exercise performance in the former group.