Samson, Kurt. Neurology Today: March 8, 2018 - Volume 18 - Issue 5 - p 34–36 doi: 10.1097/01.NT.0000531206.29854.dd
A systematic review of studies on cerebellar motor dysfunction and ataxia revealed a dearth of good evidence for therapies. In part, the author panel found that the heterogeneous nature of the disorders that comprise cerebellar ataxia make it difficult to study.
Thursday, March 8, 2018
Channelopathies influence on neurotransmitters monitorable by real time in situ voltammetry, a review and research proposal
Crespi F (2018). Med Clin Arch 2: DOI: 10.15761/MCA.1000128
It has been observed that 5-hydroxytryptophan, serotonin precursor, is more effective than placebo improving neurological symptoms in patients with Friedreich ataxia (FA). FA is an autosomal recessive genetic illness responsible for progressive damage to the nervous system in the spinal cord, in particular of sensory neurons basal for leading muscle motion of the arms and legs via link with the cerebellum.
It has been observed that 5-hydroxytryptophan, serotonin precursor, is more effective than placebo improving neurological symptoms in patients with Friedreich ataxia (FA). FA is an autosomal recessive genetic illness responsible for progressive damage to the nervous system in the spinal cord, in particular of sensory neurons basal for leading muscle motion of the arms and legs via link with the cerebellum.
Iron–sulfur clusters: from metals through mitochondria biogenesis to disease
Cardenas-Rodriguez, M., Chatzi, A. & Tokatlidis, K. J Biol Inorg Chem (2018). doi:10.1007/s00775-018-1548-6
Frataxin is involved in Fe–S clusters biogenesis. Thus, alterations linked to iron metabolism are present in FRDA. The pathophysiology of FRDA comprises deficit of aconitase and respiratory chain complexes, presence of oxidative damage markers in blood and urine, and intracellular iron accumulation [82, 84, 85, 86]. Currently, no successful treatment is available for FRDA. One main reason for this is the lack of understood detailed understanding of mechanisms of Fe–S cluster biogenesis and appropriate disease models.
Frataxin is involved in Fe–S clusters biogenesis. Thus, alterations linked to iron metabolism are present in FRDA. The pathophysiology of FRDA comprises deficit of aconitase and respiratory chain complexes, presence of oxidative damage markers in blood and urine, and intracellular iron accumulation [82, 84, 85, 86]. Currently, no successful treatment is available for FRDA. One main reason for this is the lack of understood detailed understanding of mechanisms of Fe–S cluster biogenesis and appropriate disease models.
Friedreich Ataxia Scientific News: Monthly update: February 7- March 8, 2018
Friedreich Ataxia Scientific News
Monthly update: February 7- March 8, 2018
Thursday, March 8, 2018
Small RNA-seq analysis of
circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia
patients
Friday, March 2, 2018
Neuroimagem na ataxia de Friedreich
= novas abordagens e aplicações clínicas = Neuroimaging in Friedreich's ataxia
= new approaches and clinical aplication
Thursday, March 1, 2018
Tuesday, February 27, 2018
Monday, February 26, 2018
Friday, February 23, 2018
Thursday, February 22, 2018
Wednesday, February 21, 2018
Tuesday, February 20, 2018
Meet Our Scientists. Ernest Giralt:
"There are many diseases caused by failures in the protein-protein
interactions”
Friday, February 16, 2018
Thursday, February 15, 2018
Comprehensive systematic review
summary: Treatment of cerebellar motor dysfunction and ataxia Report of the
Guideline Development, Dissemination, and Implementation Subcommittee of the
American Academy of Neurology
Tuesday, February 13, 2018
Restless
legs syndrome and periodic leg movements in patients with movement disorders:
Specific considerations
Wednesday, February 7, 2018
Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia patients
Marta Seco-Cervera, Dayme González-Rodríguez, José Santiago Ibáñez-Cabellos, Lorena Peiró-Chova, Federico V Pallardó & José Luis García-Giménez; Sci. Data 5:180021 doi: 10.1038/sdata.2018.21 (2018).
Friedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identification of miRNA signatures and provide new molecular explanation for pathological mechanisms occurring during the natural history of FRDA. Since miRNA levels change with disease progression and pharmacological interventions, miRNAs will contribute to the design of new therapeutic strategies and will improve clinical decisions.
Friedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identification of miRNA signatures and provide new molecular explanation for pathological mechanisms occurring during the natural history of FRDA. Since miRNA levels change with disease progression and pharmacological interventions, miRNAs will contribute to the design of new therapeutic strategies and will improve clinical decisions.
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