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Related Concept Videos

Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...

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Primary motor cortex hyperexcitability in Fabry's disease.

Enzo Ortu1, Laura Fancellu, GianFranco Sau

  • 1Neurology Unit, A. Segni Hospital, ASL 1 Sassari, via Colle Cappuccini, 07014 Ozieri (SS), Italy.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|March 12, 2013
PubMed
Summary

Fabry disease (FD) patients exhibit heightened motor cortex excitability due to increased glutamatergic activity, even without visible brain lesions. Enzyme replacement therapy partially reversed these subtle biochemical brain lesions.

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Area of Science:

  • Neuroscience
  • Neurology
  • Biochemistry

Background:

  • Cerebrovascular lesions are characteristic of Fabry disease (FD).
  • Remote brain area excitability changes are known following ischemic stroke.
  • Pyramidal cell involvement is a potential factor in these changes.

Purpose of the Study:

  • To investigate motor cortex excitability in Fabry disease patients.
  • To utilize transcranial magnetic stimulation (TMS) for assessing neuronal function.
  • To explore potential early neuronal involvement in FD's pathophysiology.

Main Methods:

  • Transcranial magnetic stimulation (TMS) parameters were measured in 11 FD patients and 11 controls.
  • Assessed parameters included resting motor threshold (RMT), active motor threshold (AMT), input-output curves (IN-OUT), and intracortical inhibition/facilitation (SICI, LICI, ICF, SICF).
  • Central motor conduction time (CMCT), cortical silent period (cSP), and short afferent inhibition (SAI) were also evaluated.

Main Results:

  • FD patients demonstrated significantly increased steepness in IN-OUT, ICF, and SICF curves.
  • No significant differences were observed in RMT, AMT, CMCT, SICI, LICI, or SAI between FD patients and controls.
  • These findings suggest heightened excitatory circuit activity in the motor cortex of FD patients.

Conclusions:

  • Data indicate increased motor cortex glutamatergic excitatory circuit activity in FD.
  • This abnormality is present even in FD patients without detectable brain MRI lesions.
  • Enzyme replacement therapy showed a partial reversal of these motor cortex excitability changes.
  • Findings suggest subtle "biochemical brain lesions" resulting from early neuronal/astrocytic involvement in FD.