Mário Wilson Iervolino Brotto

Publications (2)1.27 Total impact

• Article: Autosomal dominant HMSN with proximal involvement: new Brazilian cases.

  Cristiane Borges Patroclo, Angelina Maria Martins Lino, Paulo Eurípides Marchiori, Mário Wilson Iervolino Brotto, Maria Teresa Alves Hirata
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  ABSTRACT: We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.
  Arquivos de neuro-psiquiatria 09/2009; 67(3B):892-6. · 0.55 Impact Factor
• Article: A case of primary spinal myoclonus: clinical presentation and possible mechanisms involved.

  Cynthia Resende Campos, João Carlos Papaterra Limongi, Flávia Costa Nunes Machado, Mário Wilson Iervolino Brotto
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  ABSTRACT: Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal and no structural lesion was found in magnetic resonance imaging (MRI). Botulinum toxin type A was injected in infrahyoid muscles and cervical paraspinal musculature. The patient remained free of symptoms for almost five months. The pathophysiology of spinal myoclonus remains speculative, but there is evidence that various possible mechanisms can be involved: loss of inhibitory function of local dorsal horn interneurons, abnormal hyperactivity of local anterior horn neurons, aberrant local axons re-excitations and loss of inhibition from suprasegmentar descending pathways.
  Arquivos de Neuro-Psiquiatria 04/2003; 61(1):112-4. · 0.72 Impact Factor