Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease
Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/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 genetic 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 on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives.
KeywordsAmyotrophic lateral sclerosis Dementia Frontotemporal degeneration Parkinsonism Genetic Genetic test Genetic counseling Guam complex Parkinson disease
Compliance with Ethical Standards
Conflicts of Interest
Vittorio Mantero, Claudia Tarlarini, Angelo Aliprandi, Giuseppe Lauria, Andrea Rigamonti, Lucia Abate, Paola Origone, Paola Mandich, Silvana Penco and Andrea Salmaggi declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation and with the Helsinki Declaration of 1975, as revised in 2000.
No animal studies were carried out by the authors for this article.
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