Blerim Myftiu, Mehmet Barış Baslo, Elif Kocasoy Orhan; Neurol Sci Neurophysiol 2018; 35: 138-144 DOI: 10.5152/NSN.2018.11239
Polyneuropathy is frequently detected in SCA and FRDA patients. The sensory nerves in lower extremities were predominantly involved; however motor dysfunction was also noted. MUNE can offer quantitative information on motor nerve fiber and motor neuron involvement. Nerve conduction studies and needle EMG demonstrate clinical or subclinical polyneuropathy in patients with SCA and FRDA ataxia. MUNE might present another parameter for peripheral involvement.
Thursday, October 4, 2018
Tuesday, October 2, 2018
Effects of a wearable proprioceptive stabilizer on kinematics and spatio-temporal gait parameters in young with genetic ataxias
A. Romano, M. Favetta, T. Schirinzi, G. Vasco, S. Summa, S. Minosse, E. Castelli, M. Petrarca; Gait & Posture , Volume 66 , S33 Doi:10.1016/j.gaitpost.2018.07.152
Genetic ataxias are a degenerative disease of cerebellum, brain stem, and spinal cord, in which gait and limb ataxia are key clinical features. Focal mechanical vibration was found effective in improve limb and gait ataxia in adults with hereditary ataxias. Equistasi® is a medical wearable device composed by nanotechnology fibers that transform body temperature into mechanical able to generate a variation of muscle length of max 0.002 mm. This is a preliminary study to evaluate the effect of Equistasi® focal mechanical vibration on kinematic and spatio-temporal parameters in three young patients with genetic ataxias through 3D gait analysis.
Genetic ataxias are a degenerative disease of cerebellum, brain stem, and spinal cord, in which gait and limb ataxia are key clinical features. Focal mechanical vibration was found effective in improve limb and gait ataxia in adults with hereditary ataxias. Equistasi® is a medical wearable device composed by nanotechnology fibers that transform body temperature into mechanical able to generate a variation of muscle length of max 0.002 mm. This is a preliminary study to evaluate the effect of Equistasi® focal mechanical vibration on kinematic and spatio-temporal parameters in three young patients with genetic ataxias through 3D gait analysis.
Monday, October 1, 2018
The importance of central auditory evaluation in Friedreich's ataxia
Zeigelboim BS, Teive HAG, Rosa MRD, Malisky JS, Fonseca VR, Marques JM, Liberalesso PB. Arq Neuropsiquiatr. 2018 Mar;76(3):170-176. doi: 10.1590/0004-282x20180008.
Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP) assessments. Results The observed alterations were: 43.3% in the pure tone audiometry, bilateral in 36.7%; 56.6% in the BAEP test, bilateral in 50%; and 46.6% in the acoustic immittance test. There was a significant difference (p < 0.05) in the comparison between the tests performed. Conclusion In the audiological screening, there was a prevalence of the descending audiometric configuration at the frequency of 4kHz, and absence of the acoustic reflex at the same frequency. In the BAEP test, there was a prevalence of an increase of the latencies in waves I, III and V, and in the intervals of interpeaks I-III, I-V and III-V. In 13.3% of the patients, wave V was absent, and all waves were absent in 3.3% of patients.
Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP) assessments. Results The observed alterations were: 43.3% in the pure tone audiometry, bilateral in 36.7%; 56.6% in the BAEP test, bilateral in 50%; and 46.6% in the acoustic immittance test. There was a significant difference (p < 0.05) in the comparison between the tests performed. Conclusion In the audiological screening, there was a prevalence of the descending audiometric configuration at the frequency of 4kHz, and absence of the acoustic reflex at the same frequency. In the BAEP test, there was a prevalence of an increase of the latencies in waves I, III and V, and in the intervals of interpeaks I-III, I-V and III-V. In 13.3% of the patients, wave V was absent, and all waves were absent in 3.3% of patients.
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.
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.
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.
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.
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.
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.
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.
Friday, August 31, 2018
Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia
Karen A.G. Takazaki, Thiago Junqueira R. Rezende, Alberto R.M. Martinez, Carelis González, Anamarli Nucci, Iscia Lopes-Cendes, Marcondes C. França, Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia, Clinical Neurophysiology, 2018, doi:10.1016/j.clinph.2018.08.017.
We found abnormal sudomotor but normal heart rate variability in FRDA. Small cholinergic post-ganglionic fibers are affected in the disease.
We found abnormal sudomotor but normal heart rate variability in FRDA. Small cholinergic post-ganglionic fibers are affected in the disease.
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