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Muscle biopsies from patients with a muscular dystrophy (MD) often arrive at the histopathology laboratory accompanied by information indicating a definite and accurate clinical diagnosis, but, just as frequently, they do not. It is therefore inadvisable to omit conventional hist ...

The purpose of diagnosis, since the days of classical Greece, when the concept was introduced, has been to provide a basis for prognosis and for the prescription of a regimen of management. Prognosis, i.e., explaining to the patient and family what the future holds, remains the central purpose of medi ...

A variety of molecular techniques can be employed to determine carrier status in Duchenne/Becker muscular dystrophy (DMD/BMD). Some of these are described in other chapters of this book, and include linkage analysis using restriction fragment length polymorphism or CA repeats, singl ...

Idiopathic Parkinson’s disease (PD) is an age-dependent, neurodegenerative disorder and is predominantly sporadic. Only 20–30% of patients have a positive family history for PD with a complex mode of inheritance. In a few extended families, the disease is inherited as an autosomal domina ...

Parkinson’s disease (PD) is associated with progressive degeneration of melanin-containing dopamine neuron cell bodies arising in the substantia nigra pars compacta (SNpc) and projecting terminals to the striatum. The disease is best characterized biochemically as a deficie ...

The association of missense mutations in the α-synuclein gene to heritable Parkinson’s diesease (PD) indicates that dysfunction of normal α-synuclein metabolism, or novel gain-of-functions by the mutant peptides, can elicit early-onset PD (1,2). The accumulation of α-synuclein in n ...

The causes for the highly selective loss of dopaminergic neurons in the substantia nigra pars compacta in Parkinson’s disease (PD) are still unknown. However, a major advance has been recently made with the introduction of the concept of apoptosis as the route leading this specific neuronal po ...

Neurodegenerative disorders are adult-onset disabling neurologic conditions such as Parkinson’s disease (PD) in which specific subsets of brain neurons are dying. Without exception, the frequency of these disorders is increasing dramatically as the proportion of elderly in our ...

The identification of specific and selective markers of the dopamine-producing neurons that are lost in Parkinson’s disease has been a major research focus since Hornykiewicz first reported a dopamine deficiency in the disease (1). Antibodies to dopamine or tyrosine hydroxylase, the ...

One of the most valuable methods for understanding the function of a particular protein is the generation of animals that have had the gene encoding for the protein of interest disrupted, commonly known as a “quo;knockout”quo; or null mutant. By incorporating a sequence of DNA (typically encod ...

The transplantation of human fetal ventral mesencephalic (VM) tissue for patients with advanced Parkinson’s disease (PD) has now proved to be of benefit in early clinical trials (1–3). This has been clearly seen in terms of improved motor function, which has been correlated with increased flu ...

Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the progressive degeneration of the dopaminergic cells of the substantia nigra pars compacta (SNPc). Systemic levodopa therapy has proved to be an effective initial treatment for this disorder. However, re ...

Molecular biology tests can quantify extremely low levels of cancer cells, provided that a genetic marker for the cancer is known. Acute lymphoblastic leukemia (ALL) exhibits many genetic abnormalities, but most are uncommon or technically difficult to use as markers for sensitive quan ...

The development of modern molecular biology techniques and their use in characterizing the genetic abnormalities that are of pathogenic significance in non-Hodgkin’s lymphoma (NHL) now provides a means to diagnose and rationally subcategorize these neoplasms in addition to the m ...

Molecular approaches to diagnostic questions in clinical medicine are greatly impacting the way researchers and clinicians investigate and treat disease. By combining molecular techniques with classical immunologic tools such as flow cytometry (FCM; 1–3), one can begin to more fu ...

Flow cytometry (FCM) is a powerful technology that allows the rapid analysis of cellular components such as surface and intracellular antigens, or DNA content. The measurements are fast and are based on optical signals emitted by cells labeled with fluorochromes as they flow suspended in a li ...

The phenotypes useful in distinguishing normal and neoplastic leukocytes are often identified by fluorescence staining reactions detected on flow cytometers. These reactions were originally observed by fluorescence microscopy, and cells were classified by human observe ...

During the past 30 years, we have seen flow cytometry (FCM) emerge from being a research tool requiring a group of engineers, an optical bench, and a darkened room to a benchtop flow cytometer that is used routinely in a clinical setting. The flow cytometer is to cell biology what the UV-visible spectropho ...

During the development and maturation of hematopoetic precursors, certain enzymes and associated substances, such as glycogen, are produced in the developing cells (1,2), which, if detected, can provide important clues to the lineage and classification of leukemias. Although the ev ...

The characterization of the antigenic and immunologic properties of lymphoid and hematologic neoplasms has dramatically increased our understanding of the biology of these diseases and at the same time greatly enhanced our diagnostic abilities. Immunophenotyping has helped ...