This Month in Archives of Neurology

Rabchevsky and Smith provide a basic science review discussing the pathological events that contribute to the poor regenerative capacity of the injured spinal cord and describe experimental methods designed to both minimize tissue damage and promote the regrowth of injured spinal cord axons. They review several strategies that offer hope for progress in this field.

Pohl and colleagues have used proton magnetic resonance spectroscopy (¹H-MRS) for detecting and monitoring upper motor neurons in patients with ALS. Ratios of reduced N-acetylaspartate to choline-containing compounds were reduced corresponding to features of the clinical presentation and reflect disease progression in patients with amyotrophic lateral sclerosis (ALS). This is becoming a clinically useful diagnostic procedure and means to quantitate disease progression. Editorial comment is provided byBrian C. Bowen, MD, PhD, and Walter G. Bradley, DM, FRCP.

Takehisa and colleagues describe 2 families with ALS with a novel missense mutation in the SOD1 gene causing a substitution of leucine for serine at codon 126 in exon 5. This novel mutation was associated with mild clinical features and represents further new data concerning the mutational expression of the SOD1 gene.

Bakshi and colleagues assessed the value of fluid-attenuated inversion recovery (FLAIR) and other magnetic resonance imaging (MRI) techniques for detecting lesions in or near the cerebral cortex in patients with multiple sclerosis (MS). Many cortical and juxtacortical lesions in MS usually missed by MRI can be detected with FLAIR. This new, sensitive technique is of clear clinical benefit in evaluating and treating difficult patients with MS.

Hahn and colleagues have studied the range of clinical features in hereditary progressive dystonia/dopa-responsive dystonia caused by a defect in the guanosine triphosphate cyclohydrolase (GCH1) gene. Metabolic studies showed decreased metabolites of biopterin and biogenic amines in cerebrospinal fluid. A novel mutation in exon 2 of the GCH1 gene was demonstrated in 11 family members. This report offers significant new findings concerning the genotypic expression of inherited dystonia.

Simovic and colleagues have studied the effects of vascular endothelial growth factor (VEGF) gene therapy on ischemic neuropathy in patients with critical limb ischemia. Patients received injections of phVEGF₁₆₅ human plasmid in muscles of the ischemic limb. Treated patients had significant clinical improvements in symptom scores. Gene therapy for inducing therapeutic angiogenesis may be an important new approach to treat ischemic neuropathy. These preliminary findings are of great value in designing future clinical trials using this cutting-edge gene therapy approach and point to potential progress.

Feichtinger and colleagues studied patients who demonstrated ictal fear associated with epileptic discharges from mesial temporal areas. Patients were evaluated with regard to whether those with ictal fear were more or less likely to become seizure free after anteromesial temporal lobe resection. Twelve of the 33 patients reported fear at the beginning of the habitual seizures, and 11 of these patients were seizure free after a temporal lobe resection. Only 11 of 21 patients without ictal fear had a favorable postoperative outcome. Thus, evaluating patients for this clinical parameter has practical and clear implications.

Fedi and colleagues have studied the effectiveness of piracetam in treating myoclonus epilepsy. After a rigorous and thorough evaluation, they found that piracetam administered as an add-on therapy is an effective, systematic, sustained, and well-tolerated treatment for myoclonus epilepsy.

Zhou and colleagues have studied spinocerebellar ataxia (SCA) in 75 Chinese families. By molecular analysis, SCA type 1 (SCA1) was identified in 5 families and accounted for 7% of the studied Chinese families with ataxia; SCA2 12%; Machado-Joseph disease (MJD), 34%; SCA6, 4%; and SCA7, 3%. Thus, in this cohort of families in China, MJD was the major type of autosomal dominant hereditary ataxia. Worldwide, inherited ataxias represent an important segment of neurogenetic disease, and clinical-genotype correlations in Chinese families correspond to those described elsewhere.

Cohen and colleagues have evaluated acute disseminated encephalomyelitis (ADEM) and found that recurrent ADEM involves, clinically and radiologically, a brain region that was affected previously. As ADEM is a steroid-responsive disorder, awareness and early detection is important for optimal clinical outcome.

Kastenbauer and colleagues report on 3 adults who developed severe spinal cord dysfunction during the acute stage of bacterial meningitis and describe their MRI findings during this clinical period. They demonstrate, for the first time, MRI findings of adults with spinal cord involvement with severe bacterial meningitis. Extensive central intramedullary hyperintensities are found during the acute phase of illness. These MRI images during the natural course of bacterial myelitis are instructive and demonstrate the critical need for early and comprehensive MRI in suspected myelitis in the setting of bacterial meningitis. Critical perspective is provided in an editorial byKaren L. Roos, MD.

Bodman and colleagues describe an infant with an acute illness who required intensive care and who was found to have carnitine deficiency and dicarboxylic aciduria. Medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency was diagnosed by assay of his DNA, and it was demonstrated subsequently that his father was also homozygous for this mutation. Thus, in MCAD deficiency, as opposed to the usual rare autosomal recessive metabolic disease, a parent may also be an affected homozygote. This is an interesting genetic observation.

Williams and colleagues describe a woman with progressive spastic paraparesis associated with optic neuropathy and a T10 sensory level with the Sjögren syndrome who responded favorably to treatment with a combination of prednisone and cyclophosphamide.