Results 11 to 20 of about 308,172 (351)

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Molecular Genetics & Genomic Medicine, 2023
Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems.
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei   +9 more
doaj   +1 more source

Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey

Orphanet Journal of Rare Diseases, 2023
Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti   +9 more
doaj   +1 more source

Patient pathways for rare diseases in Europe: ataxia as an example

Orphanet Journal of Rare Diseases, 2023
Background Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them.
Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti   +9 more
doaj   +1 more source

Guidelines on the diagnosis and management of the progressive ataxias

Orphanet Journal of Rare Diseases, 2019
The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions,
Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt, Paola Giunti   +6 more
doaj   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]

, 2020
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R, Esparza, Christina, Finno, Carrie J, Hales, Erin N, Miller, Andrew D, Peng, Sichong, Peterson, Janel M   +6 more
core   +1 more source

Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]

, 2019
Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore, Bolasco, Giulia, De Angelis, Luciana, De Gennaro, Vincenzo, Marazziti, Daniela, Naro, Fabio, Pellegrini, Manuela, Sala, Gina La, Tassinari, Valentina   +8 more
core   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Ataxia [PDF]

Continuum, 2019
This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia.Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a more comprehensive understanding of the biological pathways critical for normal cerebellar function.
openaire   +2 more sources

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study [PDF]

, 2015
Background: Friedreich’s ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there is early manifestation of gait ataxia, and dysmetria of the arms and legs which causes impairment in daily activities that ...
Bertini, Enrico, Cappa, Paolo, Carniel, Sacha, Castelli, Enrico, Germanotta, Marco, Petrarca, Maurizio, Rossi, Stefano, Vasco, Gessica   +7 more
core   +2 more sources