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Cerebral and spinal somatosensory evoked potentials in children with CNS degenerative disease.

Spinal and cerebral somatosensory evoked potentials to peroneal nerve and median nerve stimulation were recorded in 17 children with CNS degenerative disease and compared with similar potentials obtained in a group of age-matched normal control subjects. Spinal potentials were increased in duration over caudal cord segments and were poorly defined or absent over the rostral cord in some patients. In 12 patients the conduction velocity of the spinal response was slow over spinal cord segments. However, conduction velocity over peripheral nerve and cauda equina was normal in all patients. The scalp recorded evoked potentials to both median and peroneal nerve stimulation which arise in neural structures rostral to the brain stem were absent in 14 patients. Cerebral responses and certain spinal potentials were greatly increased in amplitude in one patient with myoclonus. This study demonstrates that these methods permit an evaluation of the entire neuraxis from peripheral nerve to cerebral cortex and that they may be helpful in the evaluation of patients with diffuse or multifocal disease of the nervous system.

Brain↗

Intra-operative recording of cortical somatosensory evoked potentials as a method of spinal cord monitoring during spinal surgery.

The experience with cortical somatosensory evoked potential (SEP) recording during 13 cases of spinal neurological surgery is described. Good quality cortical SEPs were obtained in eight patients with a variety of intradural and extradural spinal disorders. The short latency components of these waveforms were stable during anaesthesia with nitrous oxide, 0.5% halothane and fentanyl. Fluctuations in signal amplitude were, however, common. In the one patient in whom the cortical SEP waveform was distorted intra-operatively, there was an increased neurological deficit. In one normal and four patients with impairment of dorsal column function, no intra-operative cortical SEP was recorded. In these five patients spinal SEPs were recorded rostral to the level of spinal disease. Monitoring spinal cord function using cortical SEPs can provide useful neurophysiological information, however, there are limitations to its utility. These relate to difficulties in signal acquisition, the low signal amplitude, attenuation of the signal during intramedullary surgery and uncertainties in signal interpretation. All these problems are exacerbated if the patient has a pre-operative clinical somatosensory deficit. Although most of these problems can be overcome using spinal SEP monitoring, intra-operative SEP recordings are not an infallible guide to spinal cord integrity since they reflect the functional status of only the dorsal column-medial lemniscus pathway.

Anesthesia↗

Allelic variation in the vitamin D receptor, lifestyle factors and lumbar spinal degenerative disease.

OBJECTIVE: To describe the relation between spinal degenerative disease, allelic variation in the vitamin D receptor gene, and lifestyle factors in a population-based association study. METHODS: Random population-based sample of 110 men and 172 women over 60 years of age participating in the Dubbo Osteoporosis Epidemiology Study who had spinal radiographs (performed according to a standardised approach), assessment of lifestyle factors, bone densitometry as well as blood taken for genotyping. RESULTS: Spinal degenerative disease of varying severity was common in this sample. Multivariate analysis of genetic and lifestyle factors simultaneously strengthened the statistical significance of each indicating the presence of additive gene environment interaction. Allelic variation in the vitamin D receptor gene was associated with severity of osteophytosis (adjusted OR "TT" v "tt" 0.41, 95% CI 0.17, 0.97), presence of disc narrowing (adjusted OR "TT" v "tt" 0.45, 95% CI 0.20, 0.99) and weakly with presence of osteophytosis (adjusted OR "TT" v "tt" 0.47, 95% CI 0.19, 1.16) but not with severity of disc narrowing (OR "TT" v "tt" 1.05, 95% CI 0.40, 2.72) or apophyseal arthritis (OR "TT" v "tt" 0.63, 95% CI 0.24, 1.59). Adjustment for femoral neck bone density did not change these findings suggesting that the association is not mediated through bone density. Presence and severity of spinal degenerative disease increased with age at all sites. Current smoking increased both the presence (adjusted OR 9.70, 95% CI 2.08, 45.1) and severity (adjusted OR 2.91, 95% CI 1.16, 9.03) of spinal osteophytosis with intermediate values for past smokers. Severity of osteophytosis was also independently associated with body mass index and quadriceps strength consistent with a contributory effect of physical loading. CONCLUSIONS: In this elderly sample, both genetic and lifestyle factors were associated with the presence and severity of spinal degenerative disease. There were site specific differences in associations at the spine, which may be because of misclassification of disease status or may indicate possible environmental and genetic differences in the pathophysiology of spinal degenerative disease. Further studies are required to confirm these findings in different population samples and to further explore potential aetiological mechanisms particularly gene environment interaction.

Aged↗

Spinal hydatid disease.

STUDY DESIGN: Review article on spinal involvement of hydatid disease. OBJECTIVES: A better understanding of this rare but clinically challenging disease is intended. An overview of the epidemiology, pathogenesis, presentation and diagnosis of spinal hydatid disease is provided. Management problems and frequent pitfalls are discussed as well as current therapeutic options, results and outcome. METHODS: Thirty-seven reports of spinal hydatid disease published between 1964 and 2000 were reviewed. RESULTS: Most of the reported cases of spinal hydatid disease presented with spinal cord compression syndrome. Due to the relative rarity of the problem the diagnosis was frequently made during surgery. Surgical intervention by decompressive laminectomy was the most frequent first management. Reports of anterior procedures as well as spinal stabilization exist. Intraoperative prophylaxis to reduce spillage as well as pharmacotherapy were usually instituted. Results of surgery were generally reported to be poor. Progressive neurological and mechanical deterioration over the years was the most frequently reported disease course. Anecdotal reports of alternative management strategies exist. CONCLUSION: Spinal hydatid disease should be considered in the differential diagnosis of spinal cord compression syndrome in endemic countries and sought after with imaging and serology. Treatment is based on surgical decompression. Despite therapy the disease frequently relapses with progressive destruction of the vertebral column and neurological deterioration. Retention of spinal stability is the major long term concern. Overall outcome is poor with few reports of disease-free long term survival.

Echinococcosis↗

Magnetic resonance imaging of spinal cord disease of childhood.

Correct diagnosis of spinal cord disease in childhood is often delayed, resulting in irreversible neurologic deficits. A major reason for this delay is the lack of a reliable means to noninvasively visualize the spinal cord. Magnetic resonance imaging (MRI) should be useful in the evaluation of diseases of the spinal cord. A 1.5 Tesla MRI unit with a surface coil was used to study 41 children, including eight patients with intrinsic spinal cord lesions, eight patients with masses compressing the cord, 12 patients with congenital anomalies of the cord or surrounding bony structures, three patients with syrinxes, and three patients with vertebral body abnormalities. Intrinsic lesions of the cord were well seen in all cases as intrinsic irregularly widened, abnormally intense cord regions. MRI was helpful in following the course of disease in patients with primary spinal cord tumors. Areas of tumor were separable from syrinx cavities. Extrinsic lesions compressing the cord and vertebral body disease were also well visualized. Congenital anomalies of the spinal cord, including tethering and lipomatous tissue, were better seen on MRI than by any other radiographic technique. MRI is an excellent noninvasive "screening" technique for children with suspected spinal cord disease and may be the only study needed in many patients with congenital spinal cord anomalies. It is also an excellent means to diagnose and follow patients with other forms of intra- and extraspinal pathology.

Adolescent↗

Multiple myeloma: spinal MR imaging in patients with untreated newly diagnosed disease.

Spinal magnetic resonance (MR) imaging was performed in 29 patients with newly diagnosed, untreated multiple myeloma. Nineteen (66%) patients were asymptomatic. Sagittal pre- and postcontrast T1-weighted spin-echo images and gradient-recalled-echo images of the thoracic and lumbosacral spine were obtained. Marrow involvement was identified in 20 (69%) patients. There were three MR patterns: focal lesions in nine patients (31%), diffuse involvement in seven (24%), and an inhomogeneous pattern of tiny lesions on a background of normal marrow in four (14%). A statistically significant correlation between MR imaging patterns of marrow involvement and serum hemoglobin values (one-way, P = .0899; Kruskal-Wallis, P = .0620) and between MR imaging patterns and percentage of marrow plasmacytosis (Kruskal-Wallis, P = .0314) was noted, with patterns of diffuse and focal marrow involvement associated with more abnormal values. Spinal MR imaging in patients with early myeloma may reveal marrow involvement in both symptomatic and asymptomatic patients. Some correlation was found between MR imaging patterns and laboratory indexes of disease.

Adult↗

Electrophysiological evaluation of root and spinal cord disease.

The electrophysiological evaluation of root or spinal cord disease is complementary to neuroimaging studies, providing information about functional rather than anatomical integrity and information that is important for diagnostic and prognostic purposes. The electrophysiological findings help to localize a lesion but are not pathognomonic of specific diseases. The findings may also provide insight into underlying physiological mechanisms that have been disrupted. A number of different electrophysiological techniques are now in widespread use. Each of these techniques provides different information and thus has distinct utility and limitations. The optimal evaluation of patients with root or spinal cord disease requires an understanding of how these techniques complement each other and depends on the individual clinical problem for which electrophysiological assessment is requested.

Electromyography↗

Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease.

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, adult-onset motor neuronopathy that is caused by expansion of a trinucleotide (CAG) repeat in the androgen-receptor gene. The length of this repeat varies as it is passed down through SBMA families, and correlates inversely with the age of onset of the disease. The motor-neuron degeneration that occurs in this disease is probably caused by a toxic gain of function in the androgen-receptor protein. Subsequent to the identification of the mutation in SBMA, other inherited neurodegenerative diseases have been found to be caused by the expansion of CAG repeats in the coding regions of other genes. Because these diseases probably share a common pathogenesis, investigation of SBMA might help to determine a general mechanism of neuronal degeneration.

Humans↗

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Spinal muscular atrophy (SMA) is a frequent autosomal recessive neurodegenerative disorder leading to weakness and atrophy of voluntary muscles. The survival motor-neuron gene (SMN), a strong candidate for SMA, is present in two highly homologous copies (telSMN and cenSMN) within the SMA region. Only five nucleotide differences within the region between intron 6 and exon 8 distinguish these homologues. Independent of the severity of the disease, 90%-98% of all SMA patients carry homozygous deletions in telSMN, affecting either exon 7 or both exons 7 and 8. We present the molecular analysis of 42 SMA patients who carry homozygous deletions of telSMN exon 7 but not of exon 8. The question arises whether in these cases the telSMN is truncated upstream of exon 8 or whether hybrid SMN genes exist that are composed of centromeric and telomeric sequences. By a simple PCR-based assay we demonstrate that in each case the remaining telSMN exon 8 is part of a hybrid SMN gene. Sequencing of cloned hybrid SMN genes from seven patients, as well as direct sequencing and single-strand conformation analysis of all patients, revealed the same composition in all but two patients: the base-pair differences in introns 6 and 7 and exon 7 are of centromeric origin whereas exon 8 is of telomeric origin. Nonetheless, haplotype analysis with polymorphic multicopy markers, Ag1-CA and C212, localized at the 5' end of the SMN genes suggests different mechanisms of occurrence, unequal rearrangements, and gene conversion involving both copies of the SMN genes. In approximately half of all patients, we identified a consensus haplotype, suggesting a common origin. Interestingly, we identified a putative recombination hot spot represented by recombination-stimulating elements (TGGGG and TGAGGT) in exon 8 that is homologous to the human deletion-hot spot consensus sequence in the immunoglobulin switch region, the alpha-globin cluster, and the polymerase alpha arrest sites. This may explain why independent hybrid SMN genes show identical sequences.

Biomarkers↗

Early complications of spinal pedicle screw.

The complications of 648 consecutively inserted Universal AO pedicle screws (140 in the thoracic spine and 508 in the lumbar spine) performed by one surgical team to treat 91 patients with spinal problems, were reviewed. The spinal pathology consisted of: scoliosis (34 patients), degenerative lower lumbar spinal disease (25 patients), neoplastic spinal disease (11 patients), thoracic kyphosis (8 patients), spinal fractures (7 patients), lumbo-sacral spondylolisthesis (3 patients), and osteomyelitis (3 patients). Intraoperative complications were: screw misplacement (n = 3), nerve root impingement (n = 1), cerebrospinal fluid leak (n = 2) and pedicle fracture (n = 2). Postoperative complications were; deep wound infection (n = 4), screw loosening (n = 2) and rod-screw disconnection (n = 1). The conclusion was that pedicle screw fixation has an acceptable complication rate and neurological injury during this procedure is unlikely.

Adult↗

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.

Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Despite a range of disease phenotypes, SMA is caused by mutations in a single gene, the Survival of Motor Neuron 1 (SMN1) gene. Recent advances have shed light on functions of the protein product of this gene and the pathophysiology of the disease, yet, fundamental questions remain. This review attempts to highlight some of the recent advances made in the understanding of the disease and how loss of the ubiquitously expressed survival of motor neurons (SMN) protein results in the SMA phenotype. Answers to some of the questions raised may ultimately result in a viable treatment for SMA.

Animals↗

Spine and scalp somatosensory evoked potentials in normal subjects and patients with spinal cord disease: evaluation of afferent transmission.

Spine and scalp somatosensory evoked potentials (SEPs) to peroneal nerve stimulation were recorded from 20 normal subjects using 1 restricted and 3 open frequency filter bandpasses. Spine to spine and spine to scalp propagation velocities were calculated. Of those recording parameters investigated, optimal recordings were obtained using an open bandpass (5-1500 or 30-1500 Hz) and recording from 3 surface spine bipolar channels and 1 scalp bipolar channel. This method was then investigated in 40 patients with disease of the spinal cord and peripheral nervous system. Focal spinal cord compressive lesions generally resulted in slowing of spine to spine and spine to scalp propagation velocities. Diffuse or multifocal lesions of the spinal cord generally resulted in the absence of scalp responses. Although there was no consistent correlation of the SEP findings with the sensory exam, there was a correlation of the SEP findings with the clinical prognosis.

Adult↗

The value of paraxial slices in MR-imaging of spinal cord disease.

Paraxial slices in MRI of the spinal cord reveal information about anatomical structures and pathological processes not available from orthogonal plane images or other diagnostic methods. They also yield a profit in diminishing the artifacts that occur from heart movement and respiration when triggering is not employed.

Adult↗