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- Autti, Taina, et al.
(författare)
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Extensive cerebral white matter abnormality without clinical symptoms : a new hereditary condition?
- 1999
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Ingår i: Annals of Neurology. - 0364-5134 .- 1531-8249. ; 45:6, s. 801-5
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Tidskriftsartikel (refereegranskat)abstract
- 30-year-old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13-year follow-up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father.
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- Luoma, Petri, et al.
(författare)
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Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study
- 2004
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Ingår i: Lancet. ; 364:9437, s. 875-82
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA. Mitochondrial dysfunction is also suspected to participate in the pathogenesis of Parkinson's disease. However, no primary gene defects affecting mitochondrial proteins causing mendelian transmission of parkinsonism have been characterised. We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives. METHODS: In seven families of various ethnic origins we assessed patients with progressive external ophthalmoplegia and unaffected individuals by clinical, biochemical, morphological, and molecular genetic characterisation and positron emission tomography (PET). FINDINGS: We recorded mutations in POLG in members of all seven families. Clinical assessment showed significant cosegregation of parkinsonism with POLG mutations (p<0.0001), and PET findings were consistent with dopaminergic neuron loss. Post-mortem examination in two individuals showed loss of pigmented neurons and pigment phagocytosis in substantia nigra without Lewy bodies. Furthermore, most women with progressive external ophthalmoplegia had early menopause-before age 35 years. The POLG gene defect resulted in secondary accumulation of mtDNA deletions in patients' tissues. INTERPRETATION: Dysfunction of mitochondrial POLG causes a severe progressive multisystem disorder including parkinsonism and premature menopause, which are not typical of mitochondrial disease. Cosegregation of parkinsonism and POLG mutations in our families suggests that when defective, this gene can underlie mendelian transmission of parkinsonism. RELEVANCE TO PRACTICE: Awareness that mitochondrial POLG mutations can underlie parkinsonism is important for clinicians working in diagnosis of movement disorders, as well as for studies of the genetics of Parkinson's disease. Further, progressive external ophthalmoplegia with muscle weakness and neuropathy can mask symptoms of parkinsonism, and clinicians should pay special attention to detect and treat parkinsonism in those individuals.
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- Paju, S, et al.
(författare)
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Actinobacillus actinomycetemcomitans and Haemophilus aphrophilus in systemic and nonoral infections in Finland.
- 2003
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Ingår i: Acta Pathologica, Microbiologica et Immunologica Scandinavica (APMIS). - : Wiley. - 0903-4641 .- 1600-0463. ; 111:6, s. 653-657
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Tidskriftsartikel (refereegranskat)abstract
- The oral cavity is the ecological niche for Actinobacillus actinomycetemcomitans and Haemophilus aphrophilus, but occasionally they cause severe nonoral infections. In this study we present 20 systemic or nonoral infections due to A. actinomycetemcomitans and H. aphrophilus, comprising all isolates of these species forwarded to and stored in Finnish reference laboratories during the years 1988-2000. The time from specimen collection to correct species identification was 9.3 days for A. actinomycetemcomitans and 10.7 days for H. aphrophilus. A. actinomycetemcomitans strains represented serotypes a, b, c, and d. Arbitrarily primed PCR distinguished four A. actinomycetemcomitans and six H. aphrophilus genotypes. Antimicrobial susceptibility testing with benzylpenicillin, amoxicillin, tetracycline, metronidazole, azithromycin, and trovafloxacin showed generally good activities against the present strains, and the susceptibility patterns closely resembled those of oral strains. The prolonged time to recover and identify A. actinomycetemcomitans and H. aphrophilus from systemic and nonoral infections may delay the correct diagnosis of the patient, but the good antimicrobial efficacies of antimicrobial agents against these pathogens give a good prognosis for the patients and advance the treatment of severe infections caused by these fastidious organisms of oral origin.
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