Amyotrophic lateral sclerosis: a clinical review

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra‐motor manifestations are increasingly recognized. The loss of upper and lower motor neurons in the motor cortex, the brain stem nuclei and the anterior horn of the spinal cord...

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Vydáno v:	European journal of neurology Ročník 27; číslo 10; s. 1918 - 1929
Hlavní autoři:	Masrori, P., Van Damme, P.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England John Wiley & Sons, Inc 01.10.2020 John Wiley and Sons Inc
Témata:	ALS and frontotemporal dementia Amyotrophic lateral sclerosis Autosomal dominant inheritance Brain stem Cortex (motor) Dementia Dementia disorders Differential diagnosis Epidemiology Frontotemporal dementia Genetics Health services Heredity Motor neurons Muscles Neurodegenerative diseases Pathogenesis Patients Review Spinal cord sporadic and familial ALS Symptom management TDP‐43 pathology TDP-43 pathology amyotrophic lateral sclerosis sporadic and familial ALS
ISSN:	1351-5101, 1468-1331, 1468-1331
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Popis
Shrnutí:	Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra‐motor manifestations are increasingly recognized. The loss of upper and lower motor neurons in the motor cortex, the brain stem nuclei and the anterior horn of the spinal cord gives rise to progressive muscle weakness and wasting. ALS often has a focal onset but subsequently spreads to different body regions, where failure of respiratory muscles typically limits survival to 2–5 years after disease onset. In up to 50% of cases, there are extra‐motor manifestations such as changes in behaviour, executive dysfunction and language problems. In 10%–15% of patients, these problems are severe enough to meet the clinical criteria of frontotemporal dementia (FTD). In 10% of ALS patients, the family history suggests an autosomal dominant inheritance pattern. The remaining 90% have no affected family members and are classified as sporadic ALS. The causes of ALS appear to be heterogeneous and are only partially understood. To date, more than 20 genes have been associated with ALS. The most common genetic cause is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%–50% of familial ALS and 7% of sporadic ALS. These expansions are also a frequent cause of frontotemporal dementia, emphasizing the molecular overlap between ALS and FTD. To this day there is no cure or effective treatment for ALS and the cornerstone of treatment remains multidisciplinary care, including nutritional and respiratory support and symptom management. In this review, different aspects of ALS are discussed, including epidemiology, aetiology, pathogenesis, clinical features, differential diagnosis, investigations, treatment and future prospects.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23
ISSN:	1351-5101 1468-1331 1468-1331
DOI:	10.1111/ene.14393