Friday, September 28, 2018

Functional and Structural Brain Damage in Friedreich's Ataxia

Vavla Marinela, Arrigoni Filippo, Nordio Andrea, De Luca Alberto, Pizzighello Silvia, Petacchi Elisa, Paparella Gabriella, D'Angelo Maria Grazia, Brighina Erika, Russo Emanuela, Fantin Marianna, Colombo Paola, Martinuzzi Andrea; Front. Neurol., 06 September 2018 doi.:10.3389/fneur.2018.00747

Our study demonstrates the extent of CNS brain damage in FRDA by using a composite protocol of clinical and multimodal neuroimaging tools as VBM, DTI and fMRI in a cross-sectional study. Our findings support the need for future longitudinal studies and highlights the possibility that MRI studies could provide valuable paraclinical biomarkers in FRDA.
In conclusion, our multimodal imaging study provided convergent results, with a strong involvement of the cerebellar cortex, cerebellar WM tracts, in particular SCPs and ICPs and a strong functional involvement of the anterior lobe of the cerebellum during the non-dominant hand motor task. These findings bring a new dimensional role of the cortical circuitry involved in FRDA.

Thursday, September 27, 2018

Young couples from Paphos advised to get checked for rare disease before having kids

CyprusMail online, September 26th, 2018 Evie Andreou: Young couples, especially from Paphos, ought to get tested before deciding to have children to discover if they are at a high risk of having a child with the rare Ataxia disease, the Institute of Neurology and Genetics (CING) said on Tuesday.
n a written statement to mark International Ataxia Awareness Day – September 25 – CING said that in Cyprus high rates of patients have been identified in the Paphos district. Following a study in 2001-2002 it was found that about one in 12 people are carriers in the wider Paphos district. The frequency of carriers in European populations ranges between one in 50 to one in 100 people.

Thursday, September 20, 2018

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels.

Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P. Visavadiya, Sidney M. Hecht, Omar M. Khdour, Data in Brief, Volume 20, 2018,
Pages 1105-1114, doi:10.1016/j.dib.2018.08.156

As part of an ongoing program to develop potential therapeutic agents for the treatment of the neurodegenerative disease Friedreich׳s ataxia (FRDA), we have prepared a number of lipophilic methylene blue analogues. Some of these compounds significantly increase mitochondrial biogenesis and frataxin levels in cultured Friedreich’s ataxia cells . This data article describes the chemical synthesis and full physicochemical characterization of the new analogues.

Wednesday, September 19, 2018

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Alsina, D.; Purroy, R.; Ros, J.; Tamarit, J.; Pharmaceuticals 2018, 11, 89. doi:10.3390/ph11030089

Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deficient cells.

Monday, September 17, 2018

Single rod instrumentation in patients with scoliosis and co-morbidities: Indications and outcomes

Athanasios I Tsirikos, Peter R Loughenbury; World J Orthop. Sep 18, 2018; 9(9): 138-148 doi: 10.5312/wjo.v9.i9.138

Patients with complex deformities: This group included 62 complex patients with severe deformities and associated co-morbidities (Tables 1-3 and Figure 2). Underlying scoliosis diagnosis included syndromic (21 patients, Table 3), early onset idiopathic (17 patients; juvenile: 9, infantile: 8), congenital (13 patients), neuromuscular (5 patients; congenital myopathy: 1, cerebral palsy: 1, demyelinating neuropathy: 1, Friedreich’s ataxia: 1, congenital hypotonia: 1), and scoliosis associated with intraspinal anomalies (6 patients; Chiari I malformation with syringomyelia: 4, astrocytoma: 1, gaglioglioma: 1). Indications to use the single rod technique were high risk of neurological/cardiac complications, complex congenital vertebral anomalies, increased intra-operative bleeding, and low BMI.

Abnormalities of Mitochondrial Dynamics in the Failing Heart: Normalization Following Long-Term Therapy with Elamipretide

Sabbah, H.N., Gupta, R.C., Singh-Gupta, V. et al. Cardiovasc Drugs Ther (2018) 32: 319. doi:10.1007/s10557-018-6805-y

Treatment with ELAM was also shown to normalize MITO morphology in kidneys of aging mice, in rats with acute kidney injury due to ischemia reperfusion, and improved MITO ultrastructure and morphology in lymphoblasts and fibroblasts derived from patients with Friedreich ataxia.