Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):365-7. doi: 10.1136/jnnp-2011-301530.


Background: 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.

Method: Surveys assessing the definition of familial amyotrophic lateral sclerosis (FALS) were completed by clinicians with an interest in ALS.

Results: 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).

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics
  • Australia
  • Diagnosis, Differential
  • Europe
  • Female
  • Humans
  • India
  • Male
  • Mutation
  • Neurodegenerative Diseases / diagnosis*
  • Neurodegenerative Diseases / genetics*
  • Neurology / instrumentation
  • Neurology / standards*
  • North America
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics
  • Population Surveillance
  • Practice Patterns, Physicians' / standards
  • Practice Patterns, Physicians' / statistics & numerical data*
  • Reproducibility of Results
  • Surveys and Questionnaires