Rami Massie

Publications (5)7.89 Total impact

• Article: Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene.

  Rami Massie, Jing Wang, Li-Chieh Chen, Victor W Zhang, Michael P Collins, Lee-Jun C Wong, Margherita Milone
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  ABSTRACT: We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was detected in the patient's muscle but not in her blood. The low mutant load in muscle could explain the patient's late onset of the myopathy and milder phenotype when compared to the previously published cases with MTCO1 mutations.
  Journal of the neurological sciences 05/2012; 319(1-2):158-63. · 2.32 Impact Factor
• Article: Exercise intolerance due to cytochrome b mutation.

  Rami Massie, Lee-Jun C Wong, Margherita Milone
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  ABSTRACT: Cytochrome b mutations are rare causes of exercise intolerance. We report an 18-year-old man with exercise intolerance since childhood, resting lactic acidosis, cytochrome c oxidase (COX)-positive ragged-red fibers, and isolated muscle complex III deficiency due to a heteroplasmic m.14849T>C mutation in cytochrome b. We review previously described patients carrying mutations in the same gene. COX-positive ragged-red fibers together with exercise intolerance and lactic acidemia provide a clue for the diagnosis of this rare mitochondrial disorder.
  Muscle & Nerve 07/2010; 42(1):136-40. · 2.37 Impact Factor
• Article: Polymerase gamma 1 mutations: clinical correlations.

  Margherita Milone, Rami Massie
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  ABSTRACT: Mitochondrial disorders result from primary defects in the mitochondrial DNA (mtDNA) or from defects in nuclear genes which cause disease by affecting the mtDNA. POLG1 is a nuclear gene which encodes for the catalytic subunit of the mtDNA polymerase gamma, essential for mtDNA replication. Less than a decade ago, POLG1 mutations were discovered in patients with progressive external ophthalmoplegia. Since then, it has emerged that POLG1 mutations can result in a spectrum of clinical manifestations, resulting in autosomal recessive or dominant mitochondrial diseases. Here we summarize the common clinical phenotypes associated with POLG1 mutations. Alpers syndrome, progressive external ophthalmoplegia with or without limb myopathy, ataxia-neuropathy syndrome, and epilepsy are frequent clinical manifestations of the POLG1-related disease. Childhood progressive encephalopathy, Parkinsonism, stroke-like events, and isolated exercise intolerance can occur in association with POLG1 mutations. Muscle biopsy can show signs of mitochondrial dysfunction by histologic and biochemical studies or it can be unrevealing. mtDNA analysis of affected tissues can reveal depletion, multiple deletions or point mutations, but it can be occasionally noninformative by routine analysis. : POLG1 mutations result in extremely heterogenous phenotypes which often have overlapping clinical findings, making it difficult to categorize patients into syndromes. The lack of signs of mitochondrial dysfunction in the muscle biopsy does not exclude a POLG1-related disease. Analysis of mtDNA of clinically affected tissues is often informative, but not always. Molecular analysis of POLG1 is essential when POLG1-related disease is suspected. Sodium valproate should be avoided because of the risk of liver failure.
  The Neurologist 03/2010; 16(2):84-91. · 1.26 Impact Factor
• Article: Chronic cluster-like headache secondary to an epidermoid clival lesion.

  Rami Massie, Denis Sirhan, Frederick Andermann
  The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 12/2006; 33(4):421-2. · 0.97 Impact Factor
• Article: [Charcot and Babinski: beyond a simple teacher-student relationship].

  Rami Massie
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  ABSTRACT: Jean-Martin Charcot (1825-1893) is now considered to be the father of clinical neurology in France. He trained a generation of eminent neurologists, among them Joseph Babinski, with whom he had a special relationship. Babinski was undoubtedly Charcot's favorite pupil and they enjoyed an excellent collaboration at la Salpétrière. Even though both men felt tremendous respect for each other, it is sad that this relationship may, in one instance, have been detrimental to Babinski. This is probably the reason why Bouchard denied him full professorship, a decision with eventual consequences for both men. In spite of this, the neurologist of Polish origin held his master in tremendous admiration, even as he pursued Charcot's research on hysteria after his death. Even though Babinski eventually contradicted his master on many fundamental issues, it did not affect his devotion to him. The relationship between the two men can be considered as more than a simple relationship between a teacher and his pupil and may be compared to a father-son relationship, which is a reminder of the original model of Hippocratic teaching.
  The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 09/2004; 31(3):422-6. · 0.97 Impact Factor