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J Neurol Neurosurg Psychiatry 2021 Feb 9. Epub 2021 Feb 9.

Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France.

Degeneration of dorsal root ganglia (DRG) and its central and peripheral projections provokes sensory neuronopathy (SN), a rare disorder with multiple genetic and acquired causes. Clinically, patients with SN usually present with proprioceptive ataxia, patchy and asymmetric sensory abnormalities, widespread areflexia and no weakness. Classic causes of SN include cancer, Sjögren's syndrome, vitamin deficiency, chemotherapy, mitochondrial disorders and Friedreich ataxia. Read More

J Int Adv Otol 2020 Dec;16(3):411-431

Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

To establish outcomes following cochlear implantation (CI) in patients with postsynaptic auditory neuropathy (AN). Systematic review and narrative synthesis. Databases searched: MEDLINE, PubMed, EMBASE, Web of Science, Cochrane Collection and ClinicalTrials. Read More

Pediatr Neurol 2020 12 6;113:66-74. Epub 2020 Jul 6.

Klinik Landstrasse, Messerli Institute, Vienna, Austria. Electronic address:

Despite recent advances in the elucidation of etiology and pathogenesis of mitochondrial disorders, their therapeutic management remains challenging. This review focuses on currently available therapeutic options for human mitochondrial disorders. Current treatment of mitochondrial disorders relies on symptomatic, multidisciplinary therapies of various manifestations in organs such as the brain, muscle, nerves, eyes, ears, endocrine organs, heart, intestines, kidneys, lungs, bones, bone marrow, cartilage, immune system, and skin. Read More

Sci Rep 2020 09 30;10(1):16184. Epub 2020 Sep 30.

Department of Pediatrics, Emory University School of Medicine, 2015 Uppergate Drive, Atlanta, GA, 30322, USA.

Pure sensory polyneuropathy of genetic origin is rare in childhood and hence important to document the clinical and genetic etiologies from single or multi-center studies. This study focuses on a retrospective chart-review of neurological examinations and genetic and electrodiagnostic data of confirmed sensory polyneuropathy in subjects at a tertiary-care Children's Hospital from 2013 to 2019. Twenty subjects were identified and included. Read More

Cerebellum Ataxias 2020 28;7. Epub 2020 May 28.

Center for Balance Evaluation in Children (EFEE), Otolaryngology Department, Assistance Publique des Hôpitaux de Paris, Universitary Robert-Debré Hospital, F-75019 Paris, France.

Background: Friedreich ataxia (FRDA) is the most frequent form of inherited ataxias. Vestibular and auditory assessments are not commonly part of the check up for these patients despite hearing and balance complaints. Screening of vestibular and auditory function was performed in a large group of young patients with genetically confirmed FRDA. Read More

J Integr Neurosci 2020 Mar;19(1):125-129

Division of Neurology, Department of Internal Medicine, Jichi Medical University School of Medicine, Tochigi, 329-0498, Japan.

Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare. We encountered a consanguineous family with two cases of late-onset cerebellar ataxia with neuropathy. Read More

Sci Rep 2020 03 23;10(1):5207. Epub 2020 Mar 23.

CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.

Abnormalities in actin cytoskeleton have been linked to Friedreich's ataxia (FRDA), an inherited peripheral neuropathy characterised by an early loss of neurons in dorsal root ganglia (DRG) among other clinical symptoms. Despite all efforts to date, we still do not fully understand the molecular events that contribute to the lack of sensory neurons in FRDA. We studied the adult neuronal growth cone (GC) at the cellular and molecular level to decipher the connection between frataxin and actin cytoskeleton in DRG neurons of the well-characterised YG8R Friedreich's ataxia mouse model. Read More

Pract Neurol 2020 Feb 29;20(1):55-58. Epub 2019 Aug 29.

Neurology, St James's Hospital, Dublin, Ireland.

Friedreich's ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25-39 years) and very-late-onset (age of onset >40 years) forms do occur rarely. Misdiagnosis is common, particularly because the later onset forms of Friedreich's ataxia commonly do not show characteristic features of the disorder (areflexia, dysarthria, sensory neuropathy, extensor plantars, amyotrophy, cardiac involvement, diabetes mellitus, scoliosis). Read More

Cerebellum 2019 Aug 15. Epub 2019 Aug 15.

Departamento de Otorrinolaringología, Clínica Universidad de Navarra, Av. Pío XII 36, 31008, Pamplona, Navarra, Spain.

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recently described slowly progressive ataxia with severe imbalance due to the compromise of three of the four sensory inputs for balance, leaving only vision unaffected. Bilateral vestibulopathy is present but saccular and utricular function, measured by vestibular evoked myogenic potentials (VEMPs), has not been widely studied in these patients. Dysautonomia has been reported but is not among the diagnostic criteria. Read More

Cerebellum Ataxias 2019 15;6. Epub 2019 Jul 15.

1Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

Background: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 ( cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal recessive polyneuropathies associated with early onset, slow disease progression and scoliosis. Beyond nystagmus reported in some patients, neither ataxia nor cerebellar atrophy has been documented as part of the CMT4C phenotype. Read More

J Clin Neurosci 2019 Jun 22;64:71-76. Epub 2019 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia.

Friedreich ataxia (FRDA) has a significant effect on hand function which in turn, may compromise independence and quality of life. This study sought to identify the extent of muscle weakness, spasticity and changes in joint range in the hands of individuals with FRDA. We used the Modified Tardieu Scale (MTS), testing of muscle strength and goniometry to examine hand function in 19 individuals with FRDA. Read More

Neurotherapeutics 2019 04;16(2):432-449

CIBER de Enfermedades Raras (CIBERER), Valencia, 46010, Spain.

Friedreich's ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion within intron 1 of the FXN gene and characterized by peripheral neuropathy. A major feature of FRDA is frataxin deficiency with the loss of large sensory neurons of the dorsal root ganglia (DRG), namely proprioceptive neurons, undergoing dying-back neurodegeneration with progression to posterior columns of the spinal cord and cerebellar ataxia. We used isolated DRGs from a YG8R FRDA mouse model and C57BL/6J control mice for a proteomic study and a primary culture of sensory neurons from DRG to test novel pharmacological strategies. Read More

J Neurol 2018 Sep 27;265(9):2015-2022. Epub 2018 Jun 27.

Department of Neurology, Innsbruck Medical University, Anichstrasse 35, 6020, Innsbruck, Austria.

Background: Friedreich ataxia (FRDA) is an inherited movement disorder which manifests with progressive gait instability, sensory loss and cardiomyopathy. Peripheral neuropathy is an established feature of FRDA. At neuropathological examination, a depletion of large, myelinated axons is evident, but also unmyelinated fibers are affected which may result in a variety of sensory and autonomic signs and symptoms. Read More

Mol Ther 2018 08 28;26(8):1940-1952. Epub 2018 May 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U1258, 67404 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67404 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

Friedreich ataxia (FA) is a rare mitochondrial disease characterized by sensory and spinocerebellar ataxia, hypertrophic cardiomyopathy, and diabetes, for which there is no treatment. FA is caused by reduced levels of frataxin (FXN), an essential mitochondrial protein involved in the biosynthesis of iron-sulfur (Fe-S) clusters. Despite significant progress in recent years, to date, there are no good models to explore and test therapeutic approaches to stop or reverse the ganglionopathy and the sensory neuropathy associated to frataxin deficiency. Read More

J Neurol 2018 Jun 25;265(6):1454-1462. Epub 2018 Apr 25.

Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, and "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain.

The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh decade of age, their gait imbalance having been initiated in the fifth decade. In four patients cough antedated gait imbalance between 15 and 29 years; cough was spasmodic and triggered by variable factors. Read More

Clin Neurophysiol 2018 06 27;129(6):1121-1129. Epub 2018 Mar 27.

Laboratory of Neurosensory Biophysics, UMR INSERM 1107, University Clermont Auvergne, Clermont-Ferrand, France; Centre Jean Perrin, Clermont-Ferrand, France. Electronic address:

Objectives: In patients with Friedreich ataxia (FRDA), mitochondrial failure leads to impaired cellular energetics. Since many FRDA patients have impaired hearing in noise, we investigated the objective consequences on standard auditory brainstem-evoked responses (ABRs).

Methods: In 37 FRDA patients, among whom 34 with abnormal standard ABRs, hearing sensitivity, speech-in-noise intelligibility and otoacoustic emissions were controlled. Read More

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Objective: To determine how mobility device use impacts quality of life in children with Friedreich ataxia.

Study Design: Data from 111 pediatric patients with genetically confirmed Friedreich ataxia were collected from a prospective natural history study utilizing standardized clinical evaluations, including health-related quality of life using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Module. Read More

Cerebellum 2018 Jun;17(3):336-345

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, NA, Italy.

Friedreich's ataxia (FRDA) is an autosomal recessive disease presenting with ataxia, corticospinal signs, peripheral neuropathy, and cardiac abnormalities. Little effort has been made to understand the psychological and emotional burden of the disease. The aim of our study was to measure patients' ability to recognize emotions using visual and non-verbal auditory hints, and to correlate this ability with psychological, neuropsychological, and neurological variables. Read More

Muscle Nerve 2018 05 27;57(5):852-856. Epub 2017 Nov 27.

Department of Neurology, Auckland District Health Board, Auckland, New Zealand.

Introduction: Sensory impairment in Friedreich ataxia (FRDA) is generally accepted as being due to a ganglionopathy. The degree of contribution from axonal pathology remains a matter of debate. Nerve ultrasound may be able to differentiate these processes. Read More

J Neurosci Rural Pract 2017 Aug;8(Suppl 1):S117-S119

Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.

Patients with Friedreich's ataxia (FA) are at an increased risk of developing diabetes mellitus and glucose intolerance. Diabetes usually develops many years after the initial presentation. We report an 8-year-old girl who initially presented with diabetic ketoacidosis and was treated as a case of insulin-dependent diabetes mellitus. Read More

Acta Med Iran 2017 Feb;55(2):128-130

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Read More

Parkinsonism Relat Disord 2017 01 19;34:71-72. Epub 2016 Oct 19.

Neuroscience Centre, All India Institute of Medical Sciences, New Delhi 110029, India. Electronic address:

Cerebellum 2017 04;16(2):599-601

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. Read More

Case Rep Neurol Med 2016 7;2016:4515938. Epub 2016 Sep 7.

Suna and Inan Kıraç Foundation Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, 34342 Istanbul, Turkey.

Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. Read More

Behav Brain Res 2017 01 26;316:183-188. Epub 2016 Aug 26.

Department of Molecular Biosciences, University of California, Davis, CA 95616, USA. Electronic address:

Friedreich's Ataxia (FA) is a pediatric neurodegenerative disease whose clinical presentation includes ataxia, muscle weakness, and peripheral sensory neuropathy. The KIKO mouse is an animal model of FA with frataxin deficiency first described in 2002, but neurobehavioral deficits have never been described in this model. The identification of robust neurobehavioral deficits in KIKO mice could support the testing of drugs for FA, which currently has no approved therapy. Read More

Muscle Nerve 2017 02 12;55(2):E7-E8. Epub 2016 Sep 12.

Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.

Rev Neurol (Paris) 2016 Aug - Sep;172(8-9):524-529. Epub 2016 Jul 28.

Service de neurologie, hôpital de Hautepierre, 1, avenue Molière, 67000 Strasbourg, France; Fédération de médecine translationnelle, 67000 Strasbourg, France.

Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Read More

Neurologia 2019 May 25;34(4):248-258. Epub 2016 Jul 25.

Servicio de Neurología, Complexo Hospitalario Universitario, Santiago de Compostela, España. Electronic address:

Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities).

Development: This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis. Read More

Brain 2016 07 19;139(Pt 7):e39. Epub 2016 Apr 19.

1 Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1141, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France 2 Faculté de Médecine Denis Diderot, Université Paris Diderot - Paris 7, Site Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France

Dis Model Mech 2016 06 14;9(6):647-57. Epub 2016 Apr 14.

Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit at CIPF, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain CIBER de Enfermedades Raras (CIBERER), Valencia 28029, Spain Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Valencia 46010, Spain

Frataxin (FXN) deficiency causes Friedreich's ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms. FRDA pathophysiology combines developmental and degenerative processes of dorsal root ganglia (DRG), sensory nerves, dorsal columns and other central nervous structures. A dying-back mechanism has been proposed to explain the peripheral neuropathy and neuropathology. Read More