The expansions of ALS

@article{Hardiman2012TheEO,
  title={The expansions of ALS},
  author={Orla Hardiman and Denise A. Figlewicz},
  journal={Neurology},
  year={2012},
  volume={79},
  pages={842 - 843}
}
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative condition of upper and lower motor neurons. Clinical presentation is heterogeneous and is usually segregated by site of onset (bulbar vs spinal). Extreme phenotypes with better prognosis include primary lateral sclerosis (PLS) (pure upper motor neuron involvement) and progressive muscular atrophy (PMA) (pure lower motor neuron involvement).1 Although primarily a disorder of the motor system, ALS also has nonmotor features… 
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Stwardnienie zanikowe boczne z objawami piramidowo- -pozapiramidowymi oraz jako zespół paranowotworowy — opis dwóch przypadków
Autorzy opisali dwoch chorych na stwardnienie zanikowe boczne (SLA, sclerosis lateralis amyotrophica ) wspolwystepujące ze wzmozonym napieciem mieśniowym. U pierwszego pacjenta hipertonia mieśniowa…

References

SHOWING 1-10 OF 11 REFERENCES
Clinical diagnosis and management of amyotrophic lateral sclerosis
TLDR
Optimal treatment is based on symptom management and preservation of quality of life, provided in a multidisciplinary setting, and Riluzole remains the only effective drug, and extends the average survival of patients by 3–6 months.
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
TLDR
The only clinical feature that distinguishes recognized hereditary from apparently sporadic ALS is a lower mean age of onset in the former, and all the clinical features reported in hereditary cases have also been observed in sporadic cases.
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study
TLDR
Cognitive impairment, predominantly but not exclusively in the form executive dysfunction, is present in more than 40% of ALS patients who have no evidence of dementia, and its manifestations may be more heterogeneous than previously recognised.
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
TLDR
Clinical and pathological phenotypes associated with pathogenic C9ORF72 mutations in a cohort of 563 cases from Northern England show the features of a relatively rapidly progressive, but otherwise typical, variant of amyotrophic lateral sclerosis associated with both familial and sporadic presentations.
Absence of consensus in diagnostic criteria for familial neurodegenerative diseases
TLDR
There is no consensus on a standard definition for FALS among clinicians and 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.
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
TLDR
The hexanucleotide repeat expansion in C9ORF72 is a major cause of fALS and apparently sporadic ALS in the Netherlands and may justify genetic testing in patients with sALS.
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
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