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- Title
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.
- Authors
Mantero, Vittorio; Tarlarini, Claudia; Aliprandi, Angelo; Lauria, Giuseppe; Rigamonti, Andrea; Abate, Lucia; Origone, Paola; Mandich, Paola; Penco, Silvana; Salmaggi, Andrea
- 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.
- Subjects
GENETICS of amyotrophic lateral sclerosis; PARKINSON'S disease &; genetics; FRONTOTEMPORAL lobar degeneration; FAMILIES; GENETIC counseling; GENETIC testing; GENETICS
- Publication
Journal of Genetic Counseling, 2017, Vol 26, Issue 3, p442
- ISSN
1059-7700
- Publication type
Article
- DOI
10.1007/s10897-017-0088-5