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Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India

Nikhil Ratna¹, Swathi Lakshmi Pasupulati², Ravi K Nadella²

¹Department of Clinical Neurosciences, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

Neurology India

|November 10, 2022

Abstract

Background:

Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.

Objective:

To explore some complex issues in genetic counseling and testing (GCAT) in HD.

Materials And Methods:

Vignettes of patients who underwent genetic testing along with pre and post-test counseling at our GCAT clinic.

Results:

Case 1: Diagnosis of juvenile HD meant that the healthy parent was an obligate carrier of the mutation. Case 2: Consanguinity resulted in a dense prevalence of HD and >50% risk for the progeny. Case 3: Predictive testing in youth with healthy parents but affected uncles and aunts revealed a HD expansion.

Conclusions:

HD can present with complex inheritance patterns and proper counseling is necessary for better outcomes.

Keywords:

CAG expansion consanguinity juvenile Huntington's disease presymptomatic testing

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