1,721,197 research outputs found
EDITORIAL. "New and view. Neuromuscular diseases from child to adulthood: new tools and new opportunities"
No full textEditoriale di apertura del volume di Acta Myologica che raccoglie i contributi presentati al convegno dal titolo PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOG
Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine
No full textTopiramate has been shown to be highly effective for preventive treatment of migraine and its use has been significantly increased in the last few years. However, around 10% of migraineurs develop a worsening of their symptoms while on topiramate. We report a 33-year-old woman with familial hemiplegic migraine (FHM) who experienced worsening of her symptoms following repeated topiramate intake. Withdrawal of the drug rapidly constantly induced resolution of the symptoms. This is the first report of topiramate-associated worsening symptoms in FHM. It is important to be aware of this phenomenon, as topiramate is worldwide-used drug for migraine treatment
Survey of genes involved in mitochondrial biogenesis in early development of zebrafish as candidates for mitochondrial pathologies
No full textN
Molecular and functional characterization of new pathogenic mutations in mitochondrial ornithine and aspartate/glutamate transporters
No full textMutations in the SLC25A13 gene, coding for a liver-specific isoform of
the mitochondrial aspartate/glutamate carrier (AGC2), and in the
SLC25A15 gene, coding for ornithine carrier isoform 1 (ORC1), cause
type 2 citrullinemia (CTLN2) and hyperornithinemia–hyperammonemia–homocitrullinuria (3H syndrome), respectively. The aim of this
work was to identify and characterize novel mutations of these two
genes in patients presenting symptoms suggestive of AGC2 or ORC1
deficiency. In the AGC2 transcript of a Pakistani man living in Europe
suspected of being affected by CTLN2 (a highly prevalent disease in
Southeast Asia), a homozygous mutation, c.1763GNA, was found which
produces an R588Q change in the protein. In the ORC1 transcript of
patients suspected of 3H syndrome andhaving different ethnic origin, six
new homozygous mutations (c.110TNG, c.212TNA, c.337GNT, c.815CNT,
c.818TNA and c.847CNT) were found that produce M37R, L71Q, G113C,
T272I, M273K and L283F substitutions, respectively, in the protein. Each
mutation was functionally characterized in liposomes reconstituted with
AGC2 or ORC1 carrying the above-mentioned amino acid replacement.
They all reduced transport activity by approximately 90% in comparison
to the activity of the wild-type proteins suggesting that they are diseasecausing mutations
Clinical and molecular studies in two new cases of ARSACS
No full textAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodevelopmental disorder characterized by the association of spastic ataxia and sensorimotor neuropathy. Additional features include retinal changes and cognitive impairment. Today, next-generation sequencing (NGS) techniques are allowing the rapid identification of a growing number of missense variants, even in less typical forms of the disease, but the pathogenic significance of these changes is often difficult to establish on the basis of classic bioinformatics criteria and genotype/phenotype correlations. Herein, we describe two novel cases of missense mutations in SACS. The two individuals were identified during the genetic screening of a large cohort of patients with inherited ataxias. We discuss how protein studies and specialized ophthalmological investigations could represent useful pointers for the interpretation of genetic data. Combination of these tools with NGS for rapid genotyping might help to identify new true ARSACS cases
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