Loading...
Please wait, while we are loading the content...
Similar Documents
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature
| Content Provider | Scilit |
|---|---|
| Author | Bourinaris, Thomas Houlden, Henry |
| Copyright Year | 2018 |
| Description | Journal: Movement Disorders Clinical Practice Background The C9orf72 hexanucleotide expansion is one of the latest discovered repeat expansion disorders related to neurodegeneration. Its association to the FTD/ALS spectrum disorders is well established and it is considered to be one of the leading related genes. It has also been reported as a possible cause of several other phenotypes including parkinsonism and other movement disorders. Its significance though outside the FTD/ALS spectrum is not well defined. Methods A comprehensive search of the literature was performed. All relevant papers, including reviews and case series/reports on movement disorder phenotypes reported with the C9orf72 repeat expansion were reviewed. Data on frequency, natural history, phenotype, genetics and possible underlying mechanisms were assessed. Results and discussion In a number of studies C9orf72 accounts for a very small fraction of typical PD. Atypical parkinsonian syndromes, including CBS, PSP and MSA have also been reported. Features that increase the probability of positive testing include early cognitive and/or behavioural symptoms, positive family history of ALS or FTD, and the presence of UMN and LMN signs. Furthermore, several studies conclude that C9orf72 is the most common cause of HD‐phenocopies. Interestingly, a number of cases with parkinsonian phenotype that bear an intermediate range of repeats is also reported, questioning the direct causal role of C9orf72 and suggesting the possibility of being a susceptibility factor, while the presence of the expansion in normal controls questions its clinical significance. Finally, studies on pathology reveal a distinctive broad range of C9orf72‐related neurodegeneration that could explain the wide phenotypic variation. This article is protected by copyright. All rights reserved. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277362/pdf |
| Ending Page | 585 |
| Page Count | 11 |
| Starting Page | 575 |
| ISSN | 23301619 |
| e-ISSN | 23301619 |
| DOI | 10.1002/mdc3.12677 |
| Journal | Movement Disorders Clinical Practice |
| Issue Number | 6 |
| Volume Number | 5 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2018-11-01 |
| Access Restriction | Open |
| Subject Keyword | Journal: Movement Disorders Clinical Practice Psychiatry and Mental Health Parkinson's Disease Movement Disorders Repeat Expansion Disorders |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology Neurology (clinical) |
