Faculty Bibliography

From 1984 to 1988, 11 of 120 patients (9%) with motor neuron disease (MND) had paraproteins detected by serum immunofixation electrophoresis (IFE), compared with 4 (3%) by cellulose acetate gels: 1 patient had progressive spinal muscular atrophy, 5 patients had amyotrophic lateral sclerosis (ALS), and 5 patients had ALS with probable upper motor neuron signs. Four of 5 patients (80%) with cerebrospinal fluid (CSF) protein content above 75 mg/dl had paraproteins, as did 6 of 30 with values above 50 mg/dl. Four of 14 patients with cerebrospinal oligoclonal bands (OCB) also had paraproteins. Two patients with ALS, CSF protein content above 75 mg/dl, and paraproteinemia had lymphoma. We conclude the following about patients with MND: high CSF protein content (especially above 75 mg/dl) or CSF OCB makes paraproteinemia more likely; some of these patients may have lymphoma; there is an inordinately high occurrence of paraproteinemia in MND; and IFE on agarose is more sensitive than electrophoresis on cellulose acetate in detecting paraproteins. Syndromes of paraproteinemia and high CSF protein are not restricted to the lower motor neuron but qualify as 'ALS' with coexisting upper motor neuron signs

In summary, the immune peripheral neuropathies constitute a heterogeneous group of clinicopathologic syndromes. Their exact causation is variable and frequently unclear, but often a satisfying pathophysiologic mechanism is revealed only by thorough electrophysiologic, morphologic, and immunologic analysis

The clinician with interest in neuromuscular disease must become familiar with the clinical manifestations of HIV infection. It is important to realize that not everyone who is infected with HIV will develop clinical AIDS. This includes patients with clinical manifestations related to HIV infection, for example, neuropathy. Thus, if treatment is successful, patients can continue a normal life. HIV infection should be considered in almost any neuromuscular syndrome, especially neuropathies with features of demyelination, which may be the first manifestation of HIV infection. Plasmapheresis may be the treatment of choice for these disorders. Steroids should be used with caution. AZT seems to be a promising new agent to combat AIDS

There have been few cases of polymyositis in patients with AIDS, and polymyositis is rarely a cause of myoglobinuria. We studied a 20-year-old homosexual man with recurrent myoglobinuria. He was asymptomatic between episodes. Each episode was accompanied by muscle pain, limb weakness, high serum levels of creatine kinase, and pigmenturia. Muscle biopsy showed active necrosis without inflammation or abnormalities of glycolytic or other energy-generating enzymes. Antibodies to HIV were present in serum. Clinical evidence of AIDS has not developed in 2 years. Recurrent myoglobinuria may be another consequence of HIV infection

Adults with slowly progressive noninherited gait disorders may show no abnormalities on examination other than signs implicating the corticospinal tracts. That is the syndrome of 'primary lateral sclerosis' (PLS), a clinical diagnosis that has been avoided because it is a diagnosis of exclusion, proven only at autopsy. Now, modern technology can exclude other disorders that can cause the syndrome with an accuracy of about 95%. That serves to eliminate the following: compressive lesions at the foramen magnum or cervical spinal cord, multiple sclerosis, amyotrophic lateral sclerosis, Chiari malformation, syringomyelia, biochemical abnormality, and persistent infection with human immunodeficiency virus or human T-lymphotrophic virus type I. We studied three autopsy-proved cases of PLS; six living patients in whom PLS was diagnosed clinically after comprehensive evaluations that excluded the alternative diagnoses; and two patients with this syndrome of PLS and antibodies to human immunodeficiency virus seropositivity that clinically resembled PLS. Primary lateral sclerosis is now a respectable and permissible diagnosis

Dystrophin is the gene product that is affected in Duchenne muscular dystrophy (DMD). Antibodies against dystrophin were used to study the protein in muscle fibers of carriers of the gene. The results showed that DMD carriers have normal and dystrophin-deficient fibers. Dystrophin immunohistochemistry may be helpful for the detection of DMD carriers

Many neurologic disorders impair normal swallowing. In this article, the spectrum of neurologic disease in which aspiration can be a complication is reviewed