Next Article in Journal
Stereotactic Radiotherapy for Brain Metastases: Imaging Tools and Dosimetric Predictive Factors for Radionecrosis
Previous Article in Journal
Semantic Priming in Mild Cognitive Impairment and Healthy Subjects: Effect of Different Time of Presentation of Word-Pairs
Previous Article in Special Issue
An Omics View of Emery–Dreifuss Muscular Dystrophy
Open AccessReview

A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

1
Northern Ireland Center for Stratified/Personalised Medicine, Biomedical Sciences Research Institute, Ulster University, Londonderry BT47 6SB, Northern Ireland, UK
2
Department of Neurology, Altnagelvin Hospital, WHSCT, Londonderry BT47 6SB, Northern Ireland, UK
3
Motor Neurone Disease Care Centre, Royal Victoria Hospital, Belfast BT12 6BA, Northern Ireland, UK
*
Author to whom correspondence should be addressed.
Co-first authors.
J. Pers. Med. 2020, 10(3), 58; https://doi.org/10.3390/jpm10030058
Received: 18 April 2020 / Revised: 9 June 2020 / Accepted: 15 June 2020 / Published: 29 June 2020
Amyotrophic lateral sclerosis is a rare and fatal neurodegenerative disease characterised by progressive deterioration of upper and lower motor neurons that eventually culminates in severe muscle atrophy, respiratory failure and death. There is a concerning lack of understanding regarding the mechanisms that lead to the onset of ALS and as a result there are no reliable biomarkers that aid in the early detection of the disease nor is there an effective treatment. This review first considers the clinical phenotypes associated with ALS, and discusses the broad categorisation of ALS and ALS-mimic diseases into upper and lower motor neuron diseases, before focusing on the genetic aetiology of ALS and considering the potential relationship of mutations of different genes to variations in phenotype. For this purpose, a systematic review is conducted collating data from 107 original published clinical studies on monogenic forms of the disease, surveying the age and site of onset, disease duration and motor neuron involvement. The collected data highlight the complexity of the disease’s genotype–phenotype relationship, and thus the need for a nuanced approach to the development of clinical assays and therapeutics. View Full-Text
Keywords: ALS; MND; ALS variants; genotype–phenotype; ALS genes ALS; MND; ALS variants; genotype–phenotype; ALS genes
Show Figures

Graphical abstract

MDPI and ACS Style

Connolly, O.; Le Gall, L.; McCluskey, G.; Donaghy, C.G.; Duddy, W.J.; Duguez, S. A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS. J. Pers. Med. 2020, 10, 58.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Search more from Scilit
 
Search
Back to TopTop