Diagnostic genetic testing for Huntington's disease

Diagnostic genetic testing for Huntington's disease.

To cite: Craufurd D, MacLeod R, Frontali M, et al. Pract Neurol 2015;15:80–84. INTRODUCTION Huntington’s disease (HD) is an inherited neurodegenerative disorder characterised by a combination of motor abnormalities (chorea, dystonia, hypokinesia), cognitive impairment and neuropsychiatric symptoms, including depression, irritability and apathy. The age at onset is typically 35–45 years but it c...

Diagnostic Genetic Testing

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Prenatal Diagnostic Testing for Genetic Disorders

Fetal genetic disorders are abnormalities in structure or function caused by differences in the genome that are distinct from those primarily caused by environmental or other disruptive factors. Increasingly, it is recognized that these distinctions are not always clear. A genetic predisposition may increase a person’s susceptibility to environmental influences, and some genetic abnormalities m...

Prenatal Diagnostic Testing for Genetic Disorders

Fetal genetic disorders are abnormalities in structure or function caused by differences in the genome that are distinct from those primarily caused by environmental or other disruptive factors. Increasingly, it is recognized that these distinctions are not always clear. A genetic predisposition may increase a person’s susceptibility to environmental influences, and some genetic abnormalities m...

Applying Bioinfomatics Strategies in Huntingtons Disease Research