Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease
Articolo
Data di Pubblicazione:
2017
Citazione:
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease / V. Mantero, C. Tarlarini, A. Aliprandi, G. LAURIA PINTER, A. Rigamonti, L. Abate, P. Origone, P. Mandich, S. Penco, A. Salmaggi. - In: JOURNAL OF GENETIC COUNSELING. - ISSN 1059-7700. - 26:3(2017 Jun), pp. 442-446.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
amyotrophic lateral sclerosis; dementia; frontotemporal degeneration; Parkinsonism; genetic; genetic test; genetic counseling; Guam complex; Parkinson disease
Elenco autori:
V. Mantero, C. Tarlarini, A. Aliprandi, G. LAURIA PINTER, A. Rigamonti, L. Abate, P. Origone, P. Mandich, S. Penco, A. Salmaggi
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