Article

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

Trinity College Institute of Neurosciences, Beaumont Hospital, Trinity College, Dublin, Ireland.
Journal of neurology, neurosurgery, and psychiatry (Impact Factor: 5.58). 04/2012; 83(4):365-7. DOI: 10.1136/jnnp-2011-301530
Source: PubMed

ABSTRACT A small proportion of cases seen in neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS), Parkinson's disease and Alzheimer disease are familial. These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene discovery.
Surveys assessing the definition of familial amyotrophic lateral sclerosis (FALS) were completed by clinicians with an interest in ALS.
95 surveys were completed by respondents from 15 countries. A third of total respondents stated that they thought that neurologists were using the same definition for FALS (33.3%, 30). No consensus was achieved among clinicians when provided with five different definitions for FALS. However, the preferred definition was 'a patient with ALS with either a first or second degree relative also with ALS' (37.8%, 31).
There is no consensus on a standard definition for FALS among clinicians. It is likely that similar inconsistencies apply to other conditions, such as Parkinson's disease and Alzheimer disease, in which both familial and sporadic diseases occur. Inconsistent classification could hinder gene discovery.

1 Follower
 · 
90 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic testing for ALS. The first patient died within 2 years of ALS onset, while her brother still manages to walk unaided, 7 years into onset. Genetic analyses, performed on the first patient as part of a research protocol, and as clinical genetic testing on the brother, provided different results. Results for Patient 1 were negative for all investigated genes, thus suggesting that her disease may be a phenocopy, while her brother carried an autosomal dominant TARDBP mutation (p.A382T). A multidisciplinary approach may help patients and clinicians face the emerging dilemmas in such a complex field. Sharing and updating of advances, not to mention uncertainties inherent to current knowledge, with patients and families may prove to be an effective way to support them and to make them aware of the present limits of our knowledge and of the blurred border between research and clinical practice.
    Journal of Genetic Counseling 04/2015; DOI:10.1007/s10897-015-9831-y · 1.75 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: To investigate the patterns of inheritance and gene mutation status in early-onset dementia (EOD).
    American Journal of Alzheimer s Disease and Other Dementias 08/2014; 30(3). DOI:10.1177/1533317514545825 · 1.43 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Alzheimer's disease, Parkinson's disease, and motor neuron disease, the most common of the late-life neurodegenerative disorders, are in most cases thought to have complex etiologies. Common features among these disorders include insidious onset, pathological findings of protein aggregates and selected neuronal degeneration, and resulting characteristic clinical syndromes. The number of elders in the United States, including aging veterans, is increasing. Investigation of causes and preventive interventions for neurodegenerative disorders is increasingly relevant. Recent epidemiological and laboratory studies suggest that exposures years or decades before diagnosis can trigger the processes that ultimately result in a neurodegenerative disease. If this is correct, preventive measures may be needed in midlife or earlier. This article will focus on putative risk factors relevant to military service.
    Alzheimer's and Dementia 06/2014; 10(3):S213–S225. DOI:10.1016/j.jalz.2014.04.014 · 17.47 Impact Factor