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Phenotypic variability in amyotrophic lateral sclerosis.

P Couratier1, G Lautrette2, J A Luna3

  • 1Service de neurologie, centre de référence maladies rares SLA et autres maladies du neurone moteur, CHU de Limoges, Limoges, France; Inserm, IRD, U1094 Tropical Neuroepidemiology, Institute of Epidemiology and Tropical Neurology, GEIST, université de Limoges, CHU de Limoges, Limoges, France; Fédération des Centres SLA de Limoges et Tours, Litorals, Limoges, France.

Revue Neurologique
|April 27, 2021
PubMed
Summary
This summary is machine-generated.

Phenotypic variability in Amyotrophic Lateral Sclerosis (ALS) is linked to motor neuron involvement and extra-motor signs. This variability correlates with neuropathological findings like TDP-43 inclusions and selective neuronal vulnerability.

Keywords:
Amyotrophic lateral sclerosisLower motor neuronPhenotypeTransactivation Response DNA Binding ProteinUpper motor neuron

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Area of Science:

  • Neuroscience
  • Neurology
  • Pathology

Background:

  • Amyotrophic Lateral Sclerosis (ALS) presents significant clinical variability, influenced by affected body areas, motor neuron involvement, and extra-motor system engagement.
  • This phenotypic diversity extends to the distribution of motor manifestations and the presence of non-motor symptoms in ALS patients.
  • Neuropathologically, ALS is characterized by upper (UMN) and lower (LMN) motor neuron loss and the presence of Bunina bodies and TDP-43 positive inclusions.

Purpose of the Study:

  • To explore the underlying factors contributing to the observed phenotypic variability in Amyotrophic Lateral Sclerosis (ALS).
  • To investigate the relationship between clinicopathological findings and clinical presentation in ALS.
  • To identify potential key regulators of phenotypic variability in ALS.

Main Methods:

  • Analysis of clinical phenotypes based on affected body regions, UMN/LMN involvement, cognitive/behavioral changes, and progression rates.
  • Neuropathological examination focusing on motor neuron loss and the distribution of cytoplasmic inclusions (Bunina bodies, TDP-43 positive).
  • Correlation of cytopathology and neuronal loss patterns with observed phenotypic variability.

Main Results:

  • Phenotypic variability in ALS is a characteristic feature, evident in motor deficits and extra-motor signs.
  • The distribution of neuropathological changes, including neuronal loss and TDP-43 inclusions, varies among patients.
  • This pathological variability is directly associated with the clinicopathological variability observed across the ALS patient cohort.

Conclusions:

  • The clinicopathological variability in ALS is substantial and linked to the distribution of neuronal loss and cytopathology.
  • Key regulators of this phenotypic variability remain to be fully determined, but TDP-43 function and region-specific neuronal susceptibility are implicated.
  • Multicentric, region-oriented lesions progressing at different rates may underlie the patient-to-patient variability in ALS.