D Heidelberg, S Ronsin, F Bonneville… - Journal of …, 2018 - Elsevier
Ataxia is a neurodegenerative disease resulting from brainstem, cerebellar, and/or spinocerebellar tracts impairments. Symptoms onset could vary widely from childhood to late …
A Sugiyama, N Sato, Y Kimura, H Fujii… - Journal of the …, 2019 - Elsevier
We used quantitative susceptibility mapping (QSM) to assess the brain iron deposition in 28 patients with the cerebellar subtype of multiple system atrophy (MSA-C), nine patients with …
S Ronsin, S Hannoun, S Thobois, P Petiot… - European Journal of …, 2019 - Elsevier
Purpose Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxia patients (AOA) …
D Lopergolo, F Rosini, E Pretegiani… - Frontiers in Integrative …, 2024 - frontiersin.org
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts …
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy …
A Scaravilli, M Tranfa, G Pontillo, B Brais, G De Michele… - The Cerebellum, 2024 - Springer
The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions that can determine sometimes similar and …
Gluten ataxia and other central nervous system disorders could be linked to gluten enteropathy and related autoantibodies. In this narrative review, we focus on the various …
A Scaravilli, M Tranfa, G Pontillo, B Brais, G De Michele… - The cerebellum, 2024 - Springer
The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of disorders, caused by different genetic mutations often associated with a recessive …
Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited …