Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & amp; Parkinson ’s Disease

We report a patient presenting with ALS-PDC in whom pathological mutati ons/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying geneti c cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education o n the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives.
Source: Journal of Genetic Counseling - Category: Genetics & Stem Cells Source Type: research