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Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

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Corticomotoneuronal function in asymptomatic SOD-1 mutation carriers.

Steve Vucic1, Jennica M C Winhammar, Dominic B Rowe

  • 1Department of Neurology, Westmead Hospital, Western Clinical School, University of Sydney, Australia.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|April 6, 2010
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Asymptomatic carriers of the copper/zinc superoxide-dismutase-1 (SOD-1) gene mutation show normal corticomotoneuron integrity. Advanced imaging and stimulation techniques confirm no structural or functional abnormalities in these individuals.

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Imaging

Background:

  • Previous studies suggested structural abnormalities in corticomotoneurons of asymptomatic SOD-1 mutation carriers using diffusion tensor imaging (DTI).
  • These findings raised concerns about potential long-term neurological consequences and implications for medical management in this group.

Purpose of the Study:

  • To investigate the anatomical and functional integrity of corticomotoneurons in asymptomatic SOD-1 mutation carriers.
  • To clarify conflicting findings regarding corticomotoneuron abnormalities in individuals with SOD-1 gene mutations.

Main Methods:

  • Combined diffusion tensor imaging (DTI) and threshold tracking transcranial magnetic stimulation (TMS).
  • Assessed seven asymptomatic SOD-1 mutation carriers and compared them to 62 healthy controls.
  • Utilized a 3T magnetic resonance device for DTI and a 90 mm circular coil for TMS.

Main Results:

  • No significant differences were found in DTI metrics (fractional anisotropy, trace apparent diffusion coefficient) between SOD-1 mutation carriers and controls.
  • Functional assessments via TMS also revealed no significant differences in short-interval intracortical inhibition, intracortical facilitation, MEP amplitude, resting motor threshold, or cortical silent period duration.

Conclusions:

  • The study established normal anatomical and functional integrity of corticomotoneurons in asymptomatic SOD-1 mutation carriers.
  • These results suggest that additional factors beyond SOD-1 mutation expression are necessary to initiate cortical hyperexcitability and neurodegeneration in familial amyotrophic lateral sclerosis (FALS).