Abstract
Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascertain the contribution of different factors to SNh area, we measured it in 108 ALS, 102 PD, 91 other MD patients and 91 healthy controls. Demographical data were collected in all patients and controls. In ALS patients, we also recorded clinical variables, performed genetic analysis and measured baseline levels of ferritin. After family history and genetic testing, ALS patients were classified as familial (15) or sporadic (93). ALS, PD and other MD patients had a larger SNh area than controls. Left SNh and male gender, but not age, associated with larger SNh area in both patients and controls. Familial ALS patients showed larger SNh area than sporadic ones and familial ALS was the only clinical variable in the multivariate analysis to be associated with larger SNh area in ALS patients. Our results suggest that SNh associates with genetic and constitutional factors (male gender, handedness), some of which predispose to certain neurodegenerative diseases. This evidence supports the idea of SNh as an inborn marker of unspecific neuronal vulnerability.
Highlights
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease clinically characterised by progressive weakness, and by signs of upper (UMN) and lower motor neuron (LMN) impairment
An increased SN hyperechogenicity (SNh) area was first described in Parkinson’s disease (PD) patients, it has been found in other MD14–16, as well as in neurodegenerative diseases not typically characterised by substantia nigra (SN) degeneration or vulnerability, such as amyotrophic lateral sclerosis (ALS) or Friedreich’s ataxia[7, 8, 26]
We show that left side and male gender are risk factors for SNh in both controls and different diseases
Summary
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease clinically characterised by progressive weakness, and by signs of upper (UMN) and lower motor neuron (LMN) impairment. Three different phenotypes can be distinguished according to the degree of clinical impairment of UMN and LMN1: classical ALS (cALS), primary lateral sclerosis (PLS) and progressive muscular atrophy (PMA). TDP-43 deposits and a variable degree of neuronal loss can be found far beyond motor neurons in many ALS patients; e.g., substantia nigra (SN) in about 50% of them[2, 3]. By means of transcranial sonography (TCS), a larger area of increased echogenicity (hyperechogenicity) in SN has been found in patients with different neurodegenerative diseases (especially in Parkinson’s disease, PD) compared to controls[4]. This SN hyperechogenicity (SNh) is thought to reflect increased iron deposits[5]. We aimed to evaluate the contribution of demographical, clinical, biochemical and genetic factors to SNh in patients and controls
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