Body Fluid and Tissue


Peter A. LeWitt William Kupsky Mark A. Ferrante James Garbern Nirjal Nikhar Alex C. Tselis

Genetic Studies

The Human Genome Testing Methods Limitations of Testing Muscle Enzymes and Biopsy

Forearm Exercise Testing Muscle Biopsy Nerve Tissue

Nerve Selection and Techniques

Testing Methods

Brain and Meningeal Tissue

Tissue Selection and Techniques

Testing Methods

Specific Indications

Reviews and Selected Updates


For the variety of applications it offers, clinical laboratory testing for neurological disease has undergone revolutionary change in recent years. Diagnostic capabilities for metabolic diseases, for rapid detection of infection, and for determining genetic risk factors are only a few examples of recent developments in testing capabilities. Results from the clinical laboratory are the only ways to evaluate for certain neurological disorders. Laboratory tests have become an expensive part of the medical enterprise, but often they can provide the most cost-effective means for answering diagnostic questions.

Abnormalities detected by laboratory testing are not always attributable to a particular neurological disorder. Clinicians sometimes need to apply a process of decision-tree logic to derive useful information from laboratory results. Another limit of abnormal test results is that they do not always point to the mechanism of disease. The latter point was well known to a 19th-century founder of clinical laboratory medicine, Claude Bernard, who made the analogy that "as familiar as we might become with the structure of a mill, there is still much to learn before we would know the craft of a miller." The imprint of disease on the tissues and fluid compartments of the body provides an important but sometimes imperfect tool for solving clinical problems and guiding therapy. False-positive and false-negative findings, other sources of artifactual results, multimodal distributions of normal values, and the constant evolution of new information all are reasons that clinicians need to maintain a broad base of knowledge concerning laboratory medicine.

Certain screening laboratories, including complete blood counts, electrolytes, and tests of renal and hepatic function, are commonly used in the evaluation of many neurological conditions. Other studies such as drug and toxicological screens (see Chapter.3.9, ) as well as nutritional (see Chapter.40 ), coagulation (see Chapter..4.5. ), immunological (see Chapiter..5.0, ), and enzymatic studies (see Chapters..30 and 31 ) may be useful in specific clinical settings and are covered in their respective chapters in Part 3 of the textbook. This chapter focuses on the proper use of genetic studies and primary neurological tissue (muscle, nerve, and brain) in the diagnosis of neurological disease.


The pace of discovery of genes responsible for hereditary neurological diseases has escalated during recent years. The number of genetically defined disorders already is too large to permit comprehensive coverage of the molecular diagnosis of these disorders in a single chapter. Whereas the diagnosis, evaluation, and treatment of specific inherited neurological disorders are fully described in Part 3 of the textbook, this first section of the chapter focuses on the various techniques available to the clinician in the evaluation of the presence of certain inherited neurological disorders.

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