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Mechanisms of pathogenesis and molecular targets in spinal and bulbar muscular atrophy
Published on June 30, 2016 19 min
Other Talks in the Series: ALS and Other Motor Neuron Disorders
The clinical features of amyotrophic lateral sclerosis: diagnosis, natural history and epidemiology
- Prof. Kevin Talbot
- University of Oxford, UK
Hello and welcome to all listeners, my name is Carlo Rinaldi, I'm a Neurologist at University of Oxford. In the next 30 minutes or so, I'll be discussing the mechanism of pathogenesis and molecular targets in a disease called spinal and bulbar muscular atrophy or SPMA.
I will first give some background on when and how the disease was discovered, followed by the etiology and an update regarding the most recent understanding of the disease pathogenesis. I will then talk about the main histological and clinical features which helps clinicians with the diagnosis and which are the diseases that most frequently SPMA is diagnosed with. I will then discuss some of the most promising therapeutic strategies currently being tested in preclinical studies in animal models and in clinical trials.
SPMA goes under in many names, Kennedy's disease, X-linked spinal muscular atrophy type 1, X-linked spinal and bulbar muscular atrophy, spinal bulbar muscular atrophy, and spinal and bulbar muscular atrophy just to name some. Kennedy's disease comes from the name of the neurologist that described the disease in the late '60s.
Although Kennedy's disease was the name of William Kennedy, the first reports of this disease were likely published by Kurland who described in a typical form of lower motor neurons in a Japanese family in 1957. Following the reports by Kurland, additional descriptions of patients with X-linked spino-bulbar muscular atrophy in the absence of corticospinal tract involvement appeared in the literature. In 1968, Dr. Kennedy reported his experience with two large families at the Mayo Clinic in Rochester, Minnesota. And the designation of Kennedy disease was first introduced into French literature in 1979. Kennedy's initial cardinal attributes of the syndrome were most limited to a bulbar and spinal muscular atrophy of late onset with prominent fasiculations, predominantly in the lower phase with the typical tract of an X-linked trait.