Abstract
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.
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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.
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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.
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Mantero, V., Tarlarini, C., Aliprandi, A. et al. Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease. J Genet Counsel 26, 442–446 (2017). https://doi.org/10.1007/s10897-017-0088-5
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DOI: https://doi.org/10.1007/s10897-017-0088-5