| Absence of consensus in diagnostic criteria for familial neurodegenerative diseases. | |
| | |
MedLine Citation:
|
PMID: 22399794 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Susan Byrne; Marwa Elamin; Peter Bede; Orla Hardiman |
Related Documents
:
|
15605054 - Pigmented villonodular synovitis of the foot and ankle: a 12-year experience from a ter... 10064394 - Haemophilic arthropathy resembles degenerative rather than inflammatory joint disease. 18455684 - Multipotent mesenchymal stromal cells in articular diseases. 6743684 - Synthesis of fibronectin in normal and osteoarthritic articular cartilage. 8877194 - Aural symptoms as primary presentation of langerhan's cell histiocytosis. 16249504 - Cytokine gene polymorphism in sympathetic ophthalmia. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Journal of neurology, neurosurgery, and psychiatry Volume: 83 ISSN: 1468-330X ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 2012 Apr |
Date Detail:
|
Created Date: 2012-03-08 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: England |
Other Details:
|
Languages: eng Pagination: 365-7 Citation Subset: IM |
Affiliation:
|
Beaumont Hospital, Dublin 9, Trinity College, Dublin 2, Ireland; suabyrne@gmail.com. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hex...
Next Document: Plk2 regulates centriole duplication through phosphorylation-mediated degradation of Fbxw7 (human Cd...