Disorders

Neuromuscular Disease - 2019

Professor Cindy Lin was the recipient of Brain Foundation grant funding in 2019

Neuromuscular Disease

Neuromuscular Disease
Pathophysiology of the Kennedy’s Disease
Professor Cindy Lin
Brain and Mind Centre, University of Sydney, NSW
Co-Investigators : Dr Susanna Park, Dr Thanuja Dharmadasa

Project Summary:

Imagine being relatively healthy and normal, then soon after you reach adult-hood you slowly become weak and progressively not able to walk, talk or swallow properly. These are the problems that are faced by patients with Kennedy’s disease (KD). Kennedy’s disease (KD), also known as X-linked spinal and bulbar muscular atrophy (SBMA), is a rare, recessive, inherited neurodegenerative disorder which causes slowly progressive weakness and wasting of muscles. It also affects the nerves that control bulbar muscles, which control breathing, swallowing, and talking. It can also lead to androgen (male hormones) insensitivity which causes enlarged breasts in men, decreased fertility, and testicular atrophy. However, KD is the most common adult-onset SBMA, disease onset ranges from 18 to 64 ages. Often, individuals with KD are mistakenly thought to have other motor neuron diseases, such as amyotrophic lateral sclerosis (ALS). However, the time from onset to confirmation of diagnosis is on average longer than 5 years. Diagnosis of KD is delayed because there is no explicit biomarkers for the disease and the diagnosis requires the genetic confirmation. There are critical gaps in identifying reliable, sensitive biomarkers across the KD spectrum. There is an urgent need to develop disease-specific, sensitive monitoring biomarkers, to provide clues to the complex underlying pathogenic process in patients with KD.

Neurodegeneration can occur at all levels of the neuraxis, degeneration at the central (brain and the spinal cord) and in the peripheral (nerve) level. The objective is to further research looking at patterns of involvement of both central and peripheral nervous system progression. It is essential to understand both the central and peripheral involvement in KD, when subclinical abnormalities may first become evident.

The present project is designed to address these issues by establishing a comprehensive central and peripheral assessment to investigate the pathophysiology with an initial focus on Kennedy’s Disease. This will provide a platform for future studies, to expand scientific knowledge regarding pathophysiology and treatment responses, extending our clinical and neurophysiological prospective studies. The present project is built upon interdisciplinary innovative research. We will use the platform of this grant to promote clinical translational research that meaningfully improves the quality of lives of patients with KD and families affected by this slowly progressive neurodegeneration.

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